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Index > Protein center > ABCC8(Gene name) > Human
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  • ABCC8 (Gene name),
  • ATP-binding cassette sub-family C member 8 (Protein name ),  ABCC8_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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  • Gene name:
    ABCC8(HRINS;SUR;SUR1);
    Protein name:
    ATP-binding cassette sub-family C member 8;
    Alternative:
    Sulfonylurea receptor 1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with KCNJ11.
    Function:
    Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.
    Subcellular Location:
    Membrane Multi-pass membrane protein
    Protein Attributes:
    Sequence length:
    1581
    Sequence:
    50:
    MPLAFCGSEN | HSAAYRVDQG | VLNNGCFVDA | LNVVPHVFLL | FITFPILFIG | 
    100:
    WGSQSSKVHI | HHSTWLHFPG | HNLRWILTFM | LLFVLVCEIA | EGILSDGVTE | 
    150:
    SHHLHLYMPA | GMAFMAAVTS | VVYYHNIETS | NFPKLLIALL | VYWTLAFITK | 
    200:
    TIKFVKFLDH | AIGFSQLRFC | LTGLLVILYG | MLLLVEVNVI | RVRRYIFFKT | 
    250:
    PREVKPPEDL | QDLGVRFLQP | FVNLLSKGTY | WWMNAFIKTA | HKKPIDLRAI | 
    300:
    GKLPIAMRAL | TNYQRLCEAF | DAQVRKDIQG | TQGARAIWQA | LSHAFGRRLV | 
    350:
    LSSTFRILAD | LLGFAGPLCI | FGIVDHLGKE | NDVFQPKTQF | LGVYFVSSQE | 
    400:
    FLANAYVLAV | LLFLALLLQR | TFLQASYYVA | IETGINLRGA | IQTKIYNKIM | 
    450:
    HLSTSNLSMG | EMTAGQICNL | VAIDTNQLMW | FFFLCPNLWA | MPVQIIVGVI | 
    500:
    LLYYILGVSA | LIGAAVIILL | APVQYFVATK | LSQAQRSTLE | YSNERLKQTN | 
    550:
    EMLRGIKLLK | LYAWENIFRT | RVETTRRKEM | TSLRAFAIYT | SISIFMNTAI | 
    600:
    PIAAVLITFV | GHVSFFKEAD | FSPSVAFASL | SLFHILVTPL | FLLSSVVRST | 
    650:
    VKALVSVQKL | SEFLSSAEIR | EEQCAPHEPT | PQGPASKYQA | VPLRVVNRKR | 
    700:
    PAREDCRGLT | GPLQSLVPSA | DGDADNCCVQ | IMGGYFTWTP | DGIPTLSNIT | 
    750:
    IRIPRGQLTM | IVGQVGCGKS | SLLLAALGEM | QKVSGAVFWS | SLPDSEIGED | 
    800:
    PSPERETATD | LDIRKRGPVA | YASQKPWLLN | ATVEENIIFE | SPFNKQRYKM | 
    850:
    VIEACSLQPD | IDILPHGDQT | QIGERGINLS | GGQRQRISVA | RALYQHANVV | 
    900:
    FLDDPFSALD | IHLSDHLMQA | GILELLRDDK | RTVVLVTHKL | QYLPHADWII | 
    950:
    AMKDGTIQRE | GTLKDFQRSE | CQLFEHWKTL | MNRQDQELEK | ETVTERKATE | 
    1000:
    PPQGLSRAMS | SRDGLLQDEE | EEEEEAAESE | EDDNLSSMLH | QRAEIPWRAC | 
    1050:
    AKYLSSAGIL | LLSLLVFSQL | LKHMVLVAID | YWLAKWTDSA | LTLTPAARNC | 
    1100:
    SLSQECTLDQ | TVYAMVFTVL | CSLGIVLCLV | TSVTVEWTGL | KVAKRLHRSL | 
    1150:
    LNRIILAPMR | FFETTPLGSI | LNRFSSDCNT | IDQHIPSTLE | CLSRSTLLCV | 
    1200:
    SALAVISYVT | PVFLVALLPL | AIVCYFIQKY | FRVASRDLQQ | LDDTTQLPLL | 
    1250:
    SHFAETVEGL | TTIRAFRYEA | RFQQKLLEYT | DSNNIASLFL | TAANRWLEVR | 
    1300:
    MEYIGACVVL | IAAVTSISNS | LHRELSAGLV | GLGLTYALMV | SNYLNWMVRN | 
    1350:
    LADMELQLGA | VKRIHGLLKT | EAESYEGLLA | PSLIPKNWPD | QGKIQIQNLS | 
    1400:
    VRYDSSLKPV | LKHVNALIAP | GQKIGICGRT | GSGKSSFSLA | FFRMVDTFEG | 
    1450:
    HIIIDGIDIA | KLPLHTLRSR | LSIILQDPVL | FSGTIRFNLD | PERKCSDSTL | 
    1500:
    WEALEIAQLK | LVVKALPGGL | DAIITEGGEN | FSQGQRQLFC | LARAFVRKTS | 
    1550:
    IFIMDEATAS | IDMATENILQ | KVVMTAFADR | TVVTIAHRVH | TILSADLVIV | 
    1581:
    LKRGAILEFD | KPEKLLSRKD | SVFASFVRAD | K
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    MIM:
    Pfam:
    String:
    UniGene:
    KEGG:
    Uniprot:
     
    FOR
    ELISA Kit for Human ATP-binding cassette sub-family C member 8
    ELISA Kit for Human ATP-binding cassette sub-family C member 8
    CLIA Kit for Human ATP-binding cassette sub-family C member 8
    CLIA Kit for Human ATP-binding cassette sub-family C member 8
    Polyclonal Antibody for Human ATP-binding cassette sub-family C member 8
    Polyclonal Antibody for Human ATP-binding cassette sub-family C member 8
    Monoclonal Antibody for Human ATP-binding cassette sub-family C member 8
    Monoclonal Antibody for Human ATP-binding cassette sub-family C member 8
    Protein for Human ATP-binding cassette sub-family C member 8
    Protein for Human ATP-binding cassette sub-family C member 8

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    References
    1. 1.
      "An abundant, truncated human sulfonylurea receptor 1 splice variant has prodiabetic properties and impairs sulfonylurea action."
      Schmid D. , Stolzlechner M. , Sorgner A. , Bentele C. , Assinger A. , Chiba P. , Moeslinger T.
      Cell. Mol. Life Sci.69:129-148(2012) [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] (ISOFORM 3)
      tissue: Heart.
    2. 2.
      "Human beta cell sulfonylurea receptor, SUR1, expression."
      Gonzalez G. , Aguilar-Bryan L. , Bryan J.
      Submitted (1996-06) to the EMBL/GenBank/DDBJ databases
      [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 [GENOMIC DNA / MRNA];ALTERNATIVE SPLICING;VARIANT SER-1369
      tissue: Pancreatic islet.
    3. 3.
      Thomas P.T. , Wohllk N. , Huang E. , Gagel R.F. , Cote G.J.
      Submitted (1996-07) to the EMBL/GenBank/DDBJ databases
      [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 [GENOMIC DNA / MRNA] (ISOFORM 1);VARIANT SER-1369
      tissue: Brain.
      tissue: Foreskin.
    4. 4.
      Nishimura M. , Miki T. , Aizawa T. , Seino S.
      Submitted (1998-08) to the EMBL/GenBank/DDBJ databases
      [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] (ISOFORM 1);VARIANT SER-1369
      tissue: Pancreas.
    5. 5.
      [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 GENOMIC DNA]
    6. 6.
      "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy."
      Thomas P.M. , Cote G.J. , Wohllk N. , Haddad B. , Mathew P.M. , Rabl W. , Aguilar-Bryan L. , Gagel R.F. , Bryan J.
      Science268:426-429(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: NUCLEOTIDE SEQUENCE [MRNA] OF 1187-1581;VARIANT SER-1369
      tissue: Pancreatic islet.
    7. 7.
      "Membrane topology of the amino-terminal region of the sulfonylurea receptor."
      Raab-Graham K.F. , Cirilo L.J. , Boettcher A.A. , Radeke C.M. , Vandenberg C.A.
      J. Biol. Chem.274:29122-29129(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: TOPOLOGY
    8. 8.
      "Molecular biology of adenosine triphosphate-sensitive potassium channels."
      Aguilar-Bryan L. , Bryan J.
      Endocr. Rev.20:101-135(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
    9. 9.
      "Congenital hyperinsulinism: molecular basis of a heterogeneous disease."
      Meissner T. , Beinbrech B. , Mayatepek E.
      Hum. Mutat.13:351-361(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 VARIANTS
    10. 10.
      "Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy."
      Thomas P.M. , Wohllk N. , Huang E. , Kuhnle U. , Rabl W. , Gagel R.F. , Cote G.J.
      Am. J. Hum. Genet.59:510-518(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 HHF1 VAL-716
    11. 11.
      "Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians."
      Inoue H. , Ferrer J. , Welling C.M. , Elbein S.C. , Hoffman M. , Mayorga R. , Warren-Perry M. , Zhang Y. , Millns H. , Turner R. , Province M. , Bryan J. , Permutt M.A. , Aguilar-Bryan L.
      Diabetes45:825-831(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 SER-1369
    12. 12.
      "Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews."
      Nestorowicz A. , Wilson B.A. , Schoor K.P. , Inoue H. , Glaser B. , Landau H. , Stanley C.A. , Thornton P.S. , Clement J.P. IV , Bryan J. , Aguilar-Bryan L. , Permutt M.A.
      Hum. Mol. Genet.5:1813-1822(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 HHF1 PHE-1387 DEL;VARIANTS GLY-1360; SER-1369 AND ILE-1572
    13. 13.
      "Adenosine diphosphate as an intracellular regulator of insulin secretion."
      Nichols C.G. , Shyng S.-L. , Nestorowicz A. , Glaser B. , Clement J.P. IV , Gonzalez G. , Aguilar-Bryan L. , Permutt M.A. , Bryan J.
      Science272:1785-1787(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: CHARACTERIZATION OF VARIANT HHF1 ARG-1478
    14. 14.
      "Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM."
      Ohta Y. , Tanizawa Y. , Inoue H. , Hosaka T. , Ueda K. , Matsutani A. , Repunte V.P. , Yamada M. , Kurachi Y. , Bryan J. , Aguilar-Bryan L. , Permutt M.A. , Oka Y.
      Diabetes47:476-481(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 GLN-275; MET-560; ASN-810; CYS-834 AND SER-1369
    15. 15.
      "Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene."
      Hansen T. , Echwald S.M. , Hansen L. , Moeller A.M. , Almind K. , Clausen J.O. , Urhammer S.A. , Inoue H. , Ferrer J. , Bryan J. , Aguilar-Bryan L. , Permutt M.A. , Pedersen O.
      Diabetes47:598-605(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 ASN-673 AND SER-1369
    16. 16.
      "Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy."
      Shyng S.-L. , Ferrigni T. , Shepard J.B. , Nestorowicz A. , Glaser B. , Permutt M.A. , Nichols C.G.
      Diabetes47:1145-1151(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: CHARACTERIZATION OF VARIANTS HHF1 GLN-125; SER-188; LEU-591; MET-1138; GLN-1214; SER-1381; PHE-1387 DEL AND HIS-1393
    17. 17.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HHF1 GLN-74; GLN-125; SER-188; ASP-406; LEU-591; MET-1138; GLN-1214; ARG-1378; SER-1381; PHE-1387 DEL AND HIS-1393
    18. 18.
      "Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia."
      Verkarre V. , Fournet J.-C. , de Lonlay P. , Gross-Morand M.-S. , Devillers M. , Rahier J. , Brunelle F. , Robert J.-J. , Nihoul-Fekete C. , Saudubray J.-M. , Junien C.
      J. Clin. Invest.102:1286-1291(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 HHF1 PRO-1352; CYS-1420 AND TRP-1493
    19. 19.
      "A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland."
      Otonkoski T. , Aemmaelae C. , Huopio H. , Cote G.J. , Chapman J. , Cosgrove K. , Ashfield R. , Huang E. , Komulainen J. , Ashcroft F.M. , Dunne M.J. , Kere J. , Thomas P.M.
      Diabetes48:408-415(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 HHF1 ASP-187
    20. 20.
      "Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism."
      Glaser B. , Furth J. , Stanley C.A. , Baker L. , Thornton P.S. , Landau H. , Permutt M.A.
      Hum. Mutat.14:23-29(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: VARIANTS SER-1369 AND ILE-1572
    21. 21.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HHF1 GLY-841; CYS-1420 AND TRP-1493
    22. 22.
      "Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1."
      Tanizawa Y. , Matsuda K. , Matsuo M. , Ohta Y. , Ochi N. , Adachi M. , Koga M. , Mizuno S. , Kajita M. , Tanaka Y. , Tachibana K. , Inoue H. , Furukawa S. , Amachi T. , Ueda K. , Oka Y.
      Diabetes49:114-120(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: CHARACTERIZATION OF VARIANTS HHF1 CYS-1420 AND GLN-1436;VARIANT SER-1369
    23. 23.
      "Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1."
      Huopio H. , Reimann F. , Ashfield R. , Komulainen J. , Lenko H.-L. , Rahier J. , Vauhkonen I. , Kere J. , Laakso M. , Ashcroft F. , Otonkoski T.
      J. Clin. Invest.106:897-906(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: CHARACTERIZATION OF VARIANT HHF1 LYS-1506
    24. 24.
      "Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy."
      Cartier E.A. , Conti L.R. , Vandenberg C.A. , Shyng S.-L.
      Proc. Natl. Acad. Sci. U.S.A.98:2882-2887(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: CHARACTERIZATION OF VARIANT HHF1 PHE-1387 DEL
    25. 25.
      "Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels."
      Taschenberger G. , Mougey A. , Shen S. , Lester L.B. , LaFranchi S. , Shyng S.-L.
      J. Biol. Chem.277:17139-17146(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: CHARACTERIZATION OF VARIANT HHF1 PRO-1543
    26. 26.
      "Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism."
      Huopio H. , Jaeaeskelaeinen J. , Komulainen J. , Miettinen R. , Kaerkkaeinen P. , Laakso M. , Tapanainen P. , Voutilainen R. , Otonkoski T.
      J. Clin. Endocrinol. Metab.87:4502-4507(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 HHF1 ASP-187; THR-1457; LYS-1506; ASP-1550 AND VAL-1551
    27. 27.
      "Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor."
      Thornton P.S. , MacMullen C. , Ganguly A. , Ruchelli E. , Steinkrauss L. , Crane A. , Aguilar-Bryan L. , Stanley C.A.
      Diabetes52:2403-2410(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 HHF1 SER-1385 DEL;CHARACTERIZATION OF VARIANT HHF1 SER-1385 DEL
    28. 28.
      "Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor."
      Magge S.N. , Shyng S.-L. , MacMullen C. , Steinkrauss L. , Ganguly A. , Katz L.E.L. , Stanley C.A.
      J. Clin. Endocrinol. Metab.89:4450-4456(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 LIH HIS-1352;CHARACTERIZATION OF VARIANT LIH HIS-1352
    29. 29.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HHF1 GLU-70; ARG-111; GLU-1342; HIS-1418 AND TRP-1493;CHARACTERIZATION OF VARIANTS HHF1 GLU-70; ARG-111; GLU-1342; HIS-1418 AND TRP-1493
    30. 30.
      "Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."
      Ohkubo K. , Nagashima M. , Naito Y. , Taguchi T. , Suita S. , Okamoto N. , Fujinaga H. , Tsumura K. , Kikuchi K. , Ono J.
      Clin. Endocrinol. (Oxf.)62:458-465(2005) [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 HHF1 GLN-1384 AND LYS-1486;VARIANT SER-1369
    31. 31.
      "Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes."
      Henwood M.J. , Kelly A. , MacMullen C. , Bhatia P. , Ganguly A. , Thornton P.S. , Stanley C.A.
      J. Clin. Endocrinol. Metab.90:789-794(2005) [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 HHF1 SER-27; TRP-74; SER-188; GLN-495; LYS-501; SER-686; TRP-1214; GLN-1214; ASN-1336; PHE-1387 DEL; HIS-1471 AND ASN-1471
    32. 32.
      "A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes."
      Proks P. , Arnold A.L. , Bruining J. , Girard C. , Flanagan S.E. , Larkin B. , Colclough K. , Hattersley A.T. , Ashcroft F.M. , Ellard S.
      Hum. Mol. Genet.15:1793-1800(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 PNDM LEU-132;CHARACTERIZATION OF VARIANT PNDM LEU-132
    33. 33.
      "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."
      Fernandez-Marmiesse A. , Salas A. , Vega A. , Fernandez-Lorenzo J.R. , Barreiro J. , Carracedo A.
      Hum. Mutat.27:214-214(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: VARIANTS HHF1 TRP-74; ARG-111; SER-188; ARG-233; ASN-310; ARG-551; THR-719; PRO-1130; ARG-1147; LYS-1295 AND PRO-1450;VARIANTS SER-1369 AND ILE-1572
    34. 34.
      "Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."
      Suchi M. , MacMullen C.M. , Thornton P.S. , Adzick N.S. , Ganguly A. , Ruchelli E.D. , Stanley C.A.
      Mod. Pathol.19:122-129(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: VARIANTS HHF1 ARG-7; ASP-21; SER-27; TRP-74; LYS-501; PRO-503; SER-686; TRP-1214; TRP-1214; GLN-1349; ARG-1378; PHE-1387 DEL; ARG-1400 AND GLN-1493
    35. 35.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS PNDM ARG-213 AND VAL-1424;VARIANTS TNDM2 ARG-435; VAL-582; TYR-1023; GLN-1182 AND CYS-1379;CHARACTERIZATION OF VARIANT PNDM VAL-1424;CHARACTERIZATION OF VARIANT TNDM2 TYR-1023
    36. 36.
      "Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers."
      Stanik J. , Gasperikova D. , Paskova M. , Barak L. , Javorkova J. , Jancova E. , Ciljakova M. , Hlava P. , Michalek J. , Flanagan S.E. , Pearson E. , Hattersley A.T. , Ellard S. , Klimes I.
      J. Clin. Endocrinol. Metab.92:1276-1282(2007) [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 PNDM ALA-86
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