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Index > Protein center > IDS(Gene name) > Human
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  • IDS (Gene name),
  • Iduronate 2-sulfatase (Protein name ),  IDS_HUMAN from NCBI database.
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  • General Annotation
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  • Gene name:
    IDS(SIDS);
    Protein name:
    Iduronate 2-sulfatase;
    Alternative:
    Alpha-L-iduronate sulfate sulfatase(Idursulfase);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Liver iduronate 2-sulfatase is composed of two major forms (A and B) which contain both a 42 kDa and a 14 kDa polypeptides.
    Function:
    Required for the lysosomal degradation of heparan sulfate and dermatan sulfate.
    Subcellular Location:
    Lysosome
    Protein Attributes:
    Sequence length:
    550
    Sequence:
    50:
    MPPPRTGRGL | LWLGLVLSSV | CVALGSETQA | NSTTDALNVL | LIIVDDLRPS | 
    100:
    LGCYGDKLVR | SPNIDQLASH | SLLFQNAFAQ | QAVCAPSRVS | FLTGRRPDTT | 
    150:
    RLYDFNSYWR | VHAGNFSTIP | QYFKENGYVT | MSVGKVFHPG | ISSNHTDDSP | 
    200:
    YSWSFPPYHP | SSEKYENTKT | CRGPDGELHA | NLLCPVDVLD | VPEGTLPDKQ | 
    250:
    STEQAIQLLE | KMKTSASPFF | LAVGYHKPHI | PFRYPKEFQK | LYPLENITLA | 
    300:
    PDPEVPDGLP | PVAYNPWMDI | RQREDVQALN | ISVPYGPIPV | DFQRKIRQSY | 
    350:
    FASVSYLDTQ | VGRLLSALDD | LQLANSTIIA | FTSDHGWALG | EHGEWAKYSN | 
    400:
    FDVATHVPLI | FYVPGRTASL | PEAGEKLFPY | LDPFDSASQL | MEPGRQSMDL | 
    450:
    VELVSLFPTL | AGLAGLQVPP | RCPVPSFHVE | LCREGKNLLK | HFRFRDLEED | 
    500:
    PYLPGNPREL | IAYSQYPRPS | DIPQWNSDKP | SLKDIKIMGY | SIRTIDYRYT | 
    550:
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    MIM:
    Pfam:
    String:
    UniGene:
    KEGG:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Iduronate 2-sulfatase
    Cat.:
    E0204h
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human Iduronate 2-sulfatase
    Cat.:
    E0204m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Iduronate 2-sulfatase
    Cat.:
    U0204h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Iduronate 2-sulfatase
    Cat.:
    U0204m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Iduronate 2-sulfatase
    Cat.:
    P0204Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Iduronate 2-sulfatase
    Cat.:
    P0204Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Iduronate 2-sulfatase
    Monoclonal Antibody for Human Iduronate 2-sulfatase
    Protein for Human Iduronate 2-sulfatase
    Protein for Human Iduronate 2-sulfatase

    R&D Technical Data
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    Precision
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    Recovery
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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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.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    References
    1. 1.
      "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA."
      Wilson P.J. , Morris C.P. , Anson D.S. , Occhiodoro T. , Bielicki J. , Clements P.R. , Hopwood J.J.
      Proc. Natl. Acad. Sci. U.S.A.87:8531-8535(1990) [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 1);PROTEIN SEQUENCE OF 34-58 AND 456-473
      tissue: Endothelial cell.
    2. 2.
      "Sequence of the human iduronate 2-sulfatase (IDS) gene."
      Wilson P.J. , Meaney C.A. , Hopwood J.J. , Morris C.P.
      Genomics17:773-775(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 [GENOMIC DNA]
    3. 3.
      "130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus."
      Timms K.M. , Lu F. , Shen Y. , Pierson C.A. , Muzny D.M. , Gu Y. , Nelson D.L. , Gibbs R.A.
      Genome Res.5:71-78(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 [GENOMIC DNA]
    4. 4.
      "Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene."
      Malmgren H. , Carlberg B.M. , Pettersson U. , Bondeson M.L.
      Genomics29:291-293(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] (ISOFORM 2)
      tissue: Lymphocyte.
    5. 5.
      "The DNA sequence of the human X chromosome."
      Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
      Nature434:325-337(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      [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]
    7. 7.
      "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] (ISOFORM 3)
      tissue: Skin.
    8. 8.
      "Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene."
      Flomen R.H. , Green E.P. , Green P.M. , Bentley D.R. , Giannelli F.
      Hum. Mol. Genet.2:5-10(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 [GENOMIC DNA] OF 1-398
    9. 9.
      "Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene."
      Hopwood J.J. , Bunge S. , Morris C.P. , Wilson P.J. , Steglich C. , Beck M. , Schwinger E. , Gal A.
      Hum. Mutat.2:435-442(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: REVIEW ON MPS2 VARIANTS
    10. 10.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-115
      tissue: Liver.
    11. 11.
      "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)."
      Bunge S. , Steglich C. , Beck M. , Rosenkranz W. , Schwinger E. , Hopwood J.J. , Gal A.
      Hum. Mol. Genet.1:335-339(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: VARIANTS MPS2 ARG-135 AND GLY-422
    12. 12.
      "Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression."
      Crotti P.L. , Bunge S. , Anderson R.A. , Whitley C.B.
      Hum. Mol. Genet.1:755-757(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: VARIANT MPS2 TRP-468
    13. 13.
      "Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)."
      Bunge S. , Steglich C. , Zuther C. , Beck M. , Morris C.P. , Schwinger E. , Schinzel A. , Hopwood J.J. , Gal A.
      Hum. Mol. Genet.2:1871-1875(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 MPS2 ARG-86; ASP-94; ARG-120; PRO-221 AND GLY-422
    14. 14.
      "Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)."
      Schroeder W. , Wulff K. , Wehnert M. , Seidlitz G. , Herrmann F.H.
      Hum. Mutat.4:128-131(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: VARIANTS MPS2 GLU-68; HIS-293; GLY-478 AND ARG-485
    15. 15.
      "Mutation analysis of Jewish Hunter patients in Israel."
      Ben-Simon-Schiff E. , Bach G. , Hopwood J.J. , Abeliovich D.
      Hum. Mutat.4:263-270(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: VARIANT MPS2 PRO-410
    16. 16.
      "Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene."
      Jonsson J.J. , Aronovich E.L. , Braun S.E. , Whitley C.B.
      Am. J. Hum. Genet.56:597-607(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: VARIANTS MPS2 TRP-132; TYR-229; ARG-358; HIS-469 AND CYS-523
    17. 17.
      "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)."
      Popowska E. , Rathmann M. , Tylki-Szymanska A. , Bunge S. , Steglich C. , Schwinger E. , Gal A.
      Hum. Mutat.5:97-100(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: VARIANTS MPS2 LEU-86; ASN-87; PRO-92; ASN-135; CYS-345 AND TRP-468
    18. 18.
      "Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients."
      Sukegawa K. , Tomatsu S. , Fukao T. , Iwata H. , Song X.-Q. , Yamada Y. , Fukuda S. , Isogai K. , Orii T.
      Hum. Mutat.6:136-143(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: VARIANTS MPS2 PRO-48; SER-117 DEL; LEU-333; ARG-337; LEU-468 AND GLN-468
    19. 19.
      "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome."
      Li P. , Huffman P. , Thompson J.N.
      Hum. Mutat.5:272-274(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 MPS2 VAL-346
    20. 20.
      "Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene."
      Rathmann M. , Bunge S. , Beck M. , Kresse H. , Tylki-Szymanska A. , Gal A.
      Am. J. Hum. Genet.59:1202-1209(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: VARIANTS MPS2 ASP-63; THR-85; GLN-86; CYS-88; HIS-88; CYS-108; SER-117 DEL; VAL-125; ARG-134; PHE-184; ASN-252; LEU-333; ILE-347; ARG-403 AND GLN-468
    21. 21.
      "Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome."
      Olsen T.C. , Eiken H.G. , Knappskog P.M. , Kase B.F. , Mansson J.-E. , Boman H. , Apold J.
      Hum. Genet.97:198-203(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: VARIANTS MPS2 LEU-333 AND ASP-346
    22. 22.
      "Mutation analysis in 20 patients with Hunter disease."
      Goldenfum S.L. , Young E. , Michelakakis H. , Tsagarakis S. , Winchester B.
      Hum. Mutat.7:76-78(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: VARIANTS MPS2 ASP-63; ARG-86; GLY-95; PRO-205; TRP-468 AND GLN-468
    23. 23.
      "Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons."
      Li P. , Thompson J.N.
      J. Inherit. Metab. Dis.19:93-94(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: VARIANTS MPS2 LEU-333 AND GLY-334
    24. 24.
      "Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients."
      Villani G.R.D. , Balzano N. , Grosso M. , Salvadore F. , Izzo P. , di Natale P.
      Hum. Mutat.10:71-75(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 MPS2 ASP-63; THR-347; GLN-468 AND LEU-468
    25. 25.
      "Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele."
      Sukegawa K. , Song X.-Q. , Masuno M. , Fukao T. , Shimozawa N. , Fukuda S. , Isogai K. , Nishio H. , Matsuo M. , Tomatsu S. , Kondo N. , Orii T.
      Hum. Mutat.10:361-367(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 MPS2 GLN-468
    26. 26.
      "Molecular analysis in 23 Hunter disease families."
      Lissens W. , Seneca S. , Liebaers I.
      J. Inherit. Metab. Dis.20:453-456(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 MPS2 PHE-73; THR-118 DEL; HIS-121; TRP-132; ARG-336; LYS-341; GLN-347; TRP-468; GLN-468; LYS-521 AND VAL-521
    27. 27.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MPS2 ASN-45; TYR-115; LEU-228; ARG-266; LYS-434; LYS-485 AND CYS-502
    28. 28.
      "Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients."
      Froissart R. , Maire I. , Millat G. , Cudry S. , Birot A.-M. , Bonnet V. , Bouton O. , Bozon D.
      Clin. Genet.53:362-368(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 MPS2 ASN-71; SER-85; THR-85; LEU-86; GLY-88; HIS-88; PHE-89; SER-108; SER-117 DEL; ILE-118; ARG-121; ASP-138; HIS-148; ARG-229; LEU-333; ASN-334; ARG-335; GLU-336; ARG-339; ARG-403; LEU-467; GLN-468; TRP-468; ARG-480; GLN-480; LEU-480 AND SER-490
    29. 29.
      "Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients."
      Karsten S. , Voskoboeva E. , Tishkanina S. , Pettersson U. , Krasnopolskaya X. , Bondeson M.-L.
      Hum. Genet.103:732-735(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 MPS2 ASP-54; ASP-63; GLU-79; CYS-88; LEU-88; HIS-88; ARG-102; PRO-159; SER-196; GLY-198; GLU-224; LEU-333; ASP-340; TYR-432; GLN-468; TYR-478 AND ARG-485
    30. 30.
      "Detection of four novel mutations in the iduronate-2-sulfatase gene."
      Balzano N. , Villani G.R.D. , Grosso M. , Izzo P. , di Natale P.
      Hum. Mutat.11:333-333(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 MPS2 LEU-86; HIS-88; PRO-88; ILE-118 AND HIS-266
    31. 31.
      "Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease."
      Gort L. , Coll M.J. , Chabas A.
      Hum. Mutat. Suppl.1:S66-S68(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 MPS2 THR-85; HIS-88; ILE-349 AND VAL-521
    32. 32.
      "Identification of 9 novel gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients."
      Karsten S.L. , Voskoboeva E. , Carlberg B.-M. , Kleijer W.J. , Toennesen T. , Pettersson U. , Bondeson M.-L.
      Hum. Mutat.12:433-433(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 MPS2 PHE-143; TRP-184; VAL-269 AND HIS-348
    33. 33.
      "Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)."
      Isogai K. , Sukegawa K. , Tomatsu S. , Fukao T. , Song X.-Q. , Yamada Y. , Fukuda S. , Orii T. , Kondo N.
      J. Inherit. Metab. Dis.21:60-70(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 MPS2 PRO-48; THR-85; LEU-86; PRO-182; SER-196; ASP-225; MET-227; ASN-308; PRO-314; LEU-333; ARG-337; ILE-349; GLN-468; LEU-468 AND TRP-468
    34. 34.
      "Hunter disease in the Spanish population: molecular analysis in 31 families."
      Gort L. , Chabas A. , Coll M.J.
      J. Inherit. Metab. Dis.21:655-661(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 MPS2 THR-228; ARG-229; LEU-231; GLU-308; ALA-309 AND CYS-313
    35. 35.
      "Identification of 6 new mutations in the iduronate sulfatase gene."
      Vallance H.D. , Bernard L. , Rashed M. , Chiu D. , Le G. , Toone J. , Applegarth D.A. , Coulter-Mackie M.
      Hum. Mutat.13:338-338(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 MPS2 PHE-143; LYS-341; TYR-342 AND PHE-491
    36. 36.
      "Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations."
      Hartog C. , Fryer A. , Upadhyaya M.
      Hum. Mutat.14:87-87(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 MPS2 ASN-264; PRO-465 AND TRP-468
    37. 37.
      "Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)."
      Li P. , Bellows A.B. , Thompson J.N.
      J. Med. Genet.36:21-27(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 MPS2 ARG-71; GLU-82; THR-85; CYS-88; ARG-95 DEL; GLN-468; TRP-468 AND VAL-521
    38. 38.
      "Expression of five iduronate-2-sulfatase site-directed mutations."
      Villani G.R.D. , Daniele A. , Balzano N. , Di Natale P.
      Biochim. Biophys. Acta1501:71-80(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 MPS2 HIS-88; PRO-88; ILE-118 AND GLN-468
    39. 39.
      "MPS II in females: molecular basis of two different cases."
      Cudry S. , Tigaud I. , Froissart R. , Bonnet V. , Maire I. , Bozon D.
      J. Med. Genet.37:E29-E29(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 MPS2 PRO-41;CHARACTERIZATION OF VARIANT MPS2 PRO-41
    40. 40.
      "The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II."
      Bonuccelli G. , Di Natale P. , Corsolini F. , Villani G. , Regis S. , Filocamo M.
      Biochim. Biophys. Acta1537:233-238(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 MPS2 SER-117 DEL; ILE-265 AND THR-347;CHARACTERIZATION OF VARIANTS MPS2 SER-117 DEL; ILE-265 AND THR-347
    41. 41.
      "Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations."
      Moreira da Silva I. , Froissart R. , Marques dos Santos H. , Caseiro C. , Maire I. , Bozon D.
      Clin. Genet.60:316-318(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 MPS2 CYS-88; THR-95; ILE-181; ARG-422; LEU-467; GLN-468 AND TRP-468
    42. 42.
      "Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome."
      Ricci V. , Filocamo M. , Regis S. , Corsolini F. , Stroppiano M. , Di Duca M. , Gatti R.
      Am. J. Med. Genet. A120:84-87(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 MPS2 488-ILE-ALA-489;CHARACTERIZATION OF VARIANT MPS2 488-ILE-ALA-489
    43. 43.
      "Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations."
      Kim C.H. , Hwang H.Z. , Song S.M. , Paik K.H. , Kwon E.K. , Moon K.B. , Yoon J.H. , Han C.K. , Jin D.-K.
      Hum. Mutat.21:449-450(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: VARIANTS MPS2 LEU-41 DEL; TYR-117; PRO-259 AND ILE-299
    44. 44.
      "Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts."
      Lualdi S. , Pittis M.G. , Regis S. , Parini R. , Allegri A.E. , Furlan F. , Bembi B. , Filocamo M.
      J. Mol. Med.84:692-700(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 MPS2 VAL-82 AND VAL-140;CHARACTERIZATION OF VARIANTS MPS2 VAL-82 AND VAL-140
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