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Index > Protein center > PMP22(Gene name) > Human
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  • PMP22 (Gene name),
  • Peripheral myelin protein 22 (Protein name ),  PMP22_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Related Databases
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  • Gene name:
    PMP22(GAS3);
    Protein name:
    Peripheral myelin protein 22(PMP-22);
    Alternative:
    Growth arrest-specific protein 3(GAS-3);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
    Subcellular Location:
    Membrane Multi-pass membrane protein
    Protein Attributes:
    Sequence length:
    160
    Sequence:
    50:
    MLLLLLSIIV | LHVAVLVLLF | VSTIVSQWIV | GNGHATDLWQ | NCSTSSSGNV | 
    100:
    HHCFSSSPNE | WLQSVQATMI | LSIIFSILSL | FLFFCQLFTL | TKGGRFYITG | 
    150:
    IFQILAGLCV | MSAAAIYTVR | HPEWHLNSDY | SYGFAYILAW | VAFPLALLSG | 
    160:
    VIYVILRKRE | 
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    Pfam:
    KEGG:
    UniGene:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human PMP-22
    Cat.:
    E12638h
    Price:
    Please sign in first.
    MSDS:
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    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human PMP-22
    Cat.:
    E12638r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human PMP-22
    MSDS:
    Please sign in first.
    ELISA Kit for Human PMP-22
    Cat.:
    E12638m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human PMP-22
    Cat.:
    U12638m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human PMP-22
    MSDS:
    Please sign in first.
    CLIA Kit for Human PMP-22
    Cat.:
    U12638r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human PMP-22
    Cat.:
    U12638h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    Polyclonal Antibody for Human PMP-22
    Polyclonal Antibody for Human PMP-22
    Polyclonal Antibody for Human PMP-22
    Polyclonal Antibody for Human PMP-22
    Cat.:
    P12638Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human PMP-22
    Monoclonal Antibody for Human PMP-22
    Monoclonal Antibody for Human PMP-22
    Monoclonal Antibody for Human PMP-22
    Protein for Human PMP-22
    Protein for Human PMP-22
    Protein for Human PMP-22
    Protein for Human PMP-22

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A."
      Patel P.I. , Roa B.B. , Welcher A.A. , Schoener-Scott R. , Trask B. , Pentao L. , Snipes G.J. , Garcia C.A. , Francke U. , Shooter E.M. , Lupski J.R. , Suter U.
      Nat. Genet.1:159-165(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    2. 2.
      "Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin."
      Hayasaka K. , Himoro M. , Nanao K. , Sato W. , Miura M. , Uyemura K. , Takahashi E. , Takada G.
      Biochem. Biophys. Res. Commun.186:827-831(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
      tissue: Spinal cord.
    3. 3.
      "Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A."
      Valentijn L.J. , Baas F. , Wolterman R.A. , Hoogendijk J.E. , van den Bosch N.H.A. , Zorn I. , Gabreeels-Festen A.A.W.M. , de Visser M. , Bolhuis P.A.
      Nat. Genet.2:288-291(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT CMT1A PRO-16
    4. 4.
      "Sequence of human GAS3/PMP22 full-length cDNA."
      Edomi P. , Martinotti A. , Colombo M.P. , Schneider C.
      Gene126:289-290(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    5. 5.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Kidney.
    6. 6.
      "Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene."
      Martinotti A. , Cariani C.T. , Melani C. , Sozzi G. , Spurr N.K. , Pierotti M.A. , Colombo M.P.
      Hum. Mol. Genet.1:331-334(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 61-160
      tissue: Fetal fibroblast.
    7. 7.
      "Molecular genetics of Charcot-Marie-Tooth neuropathy."
      Roa B.B. , Lupski J.R.
      Adv. Hum. Genet.22:117-152(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON CMT1A VARIANTS
    8. 8.
      "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease."
      Patel P.I. , Lupski J.R.
      Trends Genet.10:128-133(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON CMT1A VARIANTS
    9. 9.
      "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies."
      Nelis E. , Haites N. , van Broeckhoven C.
      Hum. Mutat.13:11-28(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON CMT1A AND DSS VARIANTS
    10. 10.
      "Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease."
      Sakakura M. , Hadziselimovic A. , Wang Z. , Schey K.L. , Sanders C.R.
      Structure19:1160-1169(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF WILD TYPE AND MUTANT PRO-16;SUBCELLULAR LOCATION;TOPOLOGY
    11. 11.
      "Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A."
      Roa B.B. , Garcia C.A. , Pentao L. , Killian J.M. , Trask B.J. , Suter U. , Snipes G.J. , Ortiz-Lopez R. , Shooter E.M. , Patel P.I. , Lupski J.R.
      Nat. Genet.5:189-194(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DSS LYS-69 AND LEU-72;VARIANTS CMT1A CYS-79 AND MET-118
    12. 12.
      "Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene."
      Roa B.B. , Dyck P.J. , Marks H.G. , Chance P.F. , Lupski J.R.
      Nat. Genet.5:269-273(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DSS LYS-69 AND LEU-72
    13. 13.
      "Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene."
      Roa B.B. , Garcia C.A. , Suter U. , Kulpa D.A. , Wise C.A. , Mueller J. , Welcher A.A. , Snipes G.J. , Shooter E.M. , Patel P.I. , Lupski J.R.
      N. Engl. J. Med.329:96-101(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A CYS-79
    14. 14.
      "Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations."
      Gabreeels-Festen A.A.W.M. , Bolhuis P.A. , Hoogendijk J.E. , Valentijn L.J. , Eshuis E.J. , Gabreeels F.J.M.
      Acta Neuropathol.90:645-649(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A ARG-105
    15. 15.
      "Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation."
      Valentijn L.J. , Ouvrier R.A. , van den Bosch N.H.A. , Bolhuis P.A. , Baas F. , Nicholson G.A.
      Hum. Mutat.5:76-80(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS GLN-12
    16. 16.
      "Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene."
      Ionasescu V.V. , Ionasescu R. , Searby C.C. , Neahring R.
      Neurology45:1766-1767(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS LEU-72
    17. 17.
      "A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation."
      Ohnishi A. , Yoshimura T. , Kanehisa Y. , Fukushima Y.
      Rinsho Shinkeigaku35:788-792(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A ARG-93
    18. 18.
      "A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease."
      Navon R. , Seifried B. , Gal-On N.S. , Sadeh M.
      Hum. Genet.97:685-687(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A ARG-147
    19. 19.
      "Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene."
      Ionasescu V.V. , Searby C. , Greenberg S.A.
      J. Med. Genet.33:1048-1049(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS LEU-72
    20. 20.
      "Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome."
      Tyson J. , Ellis D. , Fairbrother U. , King R.H. , Muntoni F. , Jacobs J. , Malcolm S. , Harding A.E. , Thomas P.K.
      Brain120:47-63(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DSS TRP-72; ILE-76 AND PRO-80
    21. 21.
      "Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies."
      Bort S. , Nelis E. , Timmerman V. , Sevilla T. , Cruz-Martinez A. , Martinez F. , Millan J.M. , Arpa J. , Vilchez J.J. , Prieto F. , van Broeckhoven C. , Palau F.
      Hum. Genet.99:746-754(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS ARG-100
    22. 22.
      "Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene."
      Ionasescu V.V. , Searby C.C. , Ionasescu R. , Chatkupt S. , Patel N. , Koenigsberger R.
      Muscle Nerve20:97-99(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS ASP-150
    23. 23.
      "PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?"
      Nelis E. , Holmberg B. , Adolfsson R. , Holmgren G. , van Broeckhoven C.
      Nat. Genet.15:13-14(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MET-118
    24. 24.
      "A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A."
      Marrosu M.G. , Vaccargiu S. , Marrosu G. , Vannelli A. , Cianchetti C. , Muntoni F.
      Neurology48:489-493(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A VAL-107
    25. 25.
      "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible 'hot spot' on Ser72."
      Marques W. Jr. , Thomas P.K. , Sweeney M.G. , Carr L. , Wood N.W.
      Ann. Neurol.43:680-683(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DSS LEU-72 AND GLU-100
    26. 26.
      "Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease."
      Ikegami T. , Ikeda H. , Aoyama M. , Matsuki T. , Imota T. , Fukuuchi Y. , Amano T. , Toyoshima I. , Ishihara Y. , Endoh H. , Hayasaka K.
      Hum. Genet.102:294-298(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS CYS-150
    27. 27.
      "Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene."
      Bort S. , Sevilla T. , Garcia-Planells J. , Blesa D. , Paricio N. , Vilchez J.J. , Prieto F. , Palau F.
      Hum. Mutat. Suppl.1:S95-S98(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS PRO-79
    28. 28.
      "Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)."
      Sorour E. , Upadhyaya M.
      Hum. Mutat. Suppl.1:S242-S247(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MET-118
    29. 29.
      "Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies."
      Silander K. , Meretoja P. , Juvonen V. , Ignatius J. , Pihko H. , Saarinen A. , Wallden T. , Herrgaard E. , Aula P. , Savontaus M.-L.
      Hum. Mutat.12:59-68(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS PHE-84 DEL
    30. 30.
      "A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts."
      Sahenk Z. , Chen L. , Freimer M.
      Neurology51:702-707(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPP MET-30
    31. 31.
      "A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness."
      Kovach M.J. , Lin J.-P. , Boyadjiev S. , Campbell K. , Mazzeo L. , Herman K. , Rimer L.A. , Frank W. , Llewellyn B. , Wang Jabs E. , Gelber D. , Kimonis V.E.
      Am. J. Hum. Genet.64:1580-1593(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1E PRO-67
    32. 32.
      "Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease."
      Parman Y. , Plante-Bordeneuve V. , Guiochon-Mantel A. , Eraksoy M. , Said G.
      Ann. Neurol.45:518-522(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS TRP-157
      tissue: Peripheral blood.
    33. 33.
      "Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22."
      Fabrizi G.M. , Cavallaro T. , Taioli F. , Orrico D. , Morbin M. , Simonati A. , Rizzuto N.
      Neurology53:846-851(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A VAL-37
    34. 34.
      "Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22."
      Ohnishi A. , Yamamoto T. , Izawa K. , Yamamori S. , Takahashi K. , Mega H. , Jinnai K.
      Acta Neuropathol.99:327-330(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS ARG-149
    35. 35.
      "Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1."
      Numakura C. , Lin C. , Oka N. , Akiguchi I. , Hayasaka K.
      Ann. Neurol.47:101-103(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLY-157
      tissue: Peripheral blood leukocyte.
    36. 36.
      "Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients."
      Bissar-Tadmouri N. , Parman Y. , Boutrand L. , Deymeer F. , Serdaroglu P. , Vandenberghe A. , Battaloglu E.
      Clin. Genet.58:396-402(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A LEU-72
    37. 37.
      "Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients."
      Mersiyanova I.V. , Ismailov S.M. , Polyakov A.V. , Dadali E.L. , Fedotov V.P. , Nelis E. , Loefgren A. , Timmerman V. , Van Broeckhoven C. , Evgrafov O.V.
      Hum. Mutat.15:340-347(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT1A 25-VAL-SER-26 DEL AND ARG-147;VARIANT MET-118
    38. 38.
      "Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families."
      Mostacciuolo M.L. , Righetti E. , Zortea M. , Bosello V. , Schiavon F. , Vallo L. , Merlini L. , Siciliano G. , Fabrizi G.M. , Rizzuto N. , Milani M. , Baratta S. , Taroni F.
      Hum. Mutat.18:32-41(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DSS LEU-72 AND ARG-109
    39. 39.
      "Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion."
      Korn-Lubetzki I. , Argov Z. , Raas-Rothschild A. , Wirguin I. , Steiner I.
      Am. J. Med. Genet.113:275-278(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN IDP
    40. 40.
      "Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation."
      Boerkoel C.F. , Takashima H. , Garcia C.A. , Olney R.K. , Johnson J. , Berry K. , Russo P. , Kennedy S. , Teebi A.S. , Scavina M. , Williams L.L. , Mancias P. , Butler I.J. , Krajewski K. , Shy M. , Lupski J.R.
      Ann. Neurol.51:190-201(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1E ARG-28;VARIANT CMT1A/DSS PRO-71
    41. 41.
      "Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations."
      Numakura C. , Lin C. , Ikegami T. , Guldberg P. , Hayasaka K.
      Hum. Mutat.20:392-398(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A LEU-72
    42. 42.
      "Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients."
      Gabreeels-Festen A.A.W.M.
      J. Anat.200:341-356(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DSS PRO-16; ARG-80 AND ARG-105
    43. 43.
      "Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1."
      Huehne K. , Benes V. , Thiel C. , Kraus C. , Kress W. , Hoeltzenbein M. , Ploner C.J. , Kotzian J. , Reis A. , Rott H.D. , Rautenstrauss B.W.
      Hum. Mutat.21:100-100(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1A PHE-65
    44. 44.
      "Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene."
      Sambuughin N. , de Bantel A. , McWilliams S. , Sivakumar K.
      Neurology60:506-508(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1E 115-ALA--THR-118 DEL
    45. 45.
      "HNPP due to a novel missense mutation of the PMP22 gene."
      Nodera H. , Nishimura M. , Logigian E.L. , Herrmann D.N. , Kaji R.
      Neurology60:1863-1864(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPP THR-67
    46. 46.
      "A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes."
      Kleopa K.A. , Georgiou D.-M. , Nicolaou P. , Koutsou P. , Papathanasiou E. , Kyriakides T. , Christodoulou K.
      Neurogenetics5:171-175(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HNPP/CMT1A PHE-22
    47. 47.
      "A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness."
      Joo I.S. , Ki C.S. , Joo S.Y. , Huh K. , Kim J.W.
      Neuromuscul. Disord.14:325-328(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1E ARG-23
    48. 48.
      "T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy."
      Shy M.E. , Scavina M.T. , Clark A. , Krajewski K.M. , Li J. , Kamholz J. , Kolodny E. , Szigeti K. , Fischer R.A. , Saifi G.M. , Scherer S.S. , Lupski J.R.
      Ann. Neurol.59:358-364(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CNT1A MET-118
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