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Volumn 8, Issue 1, 1996, Pages 44-50

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient

Author keywords

IDS; MPS 11; Pseudogene; Recombination

Indexed keywords

IDURONATE 2 SULFATASE;

EID: 0029895858     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P     Document Type: Article
Times cited : (27)

References (21)
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    • Birot, A.-M.1    Delobel, B.2    Gronnier, P.3    Bonnet, V.4    Maire, I.5    Bozon, D.6
  • 2
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    • Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
    • Bondeson M-L, Dahl N, Malmgren H, Kleijer W J, Tönnesen T, Carlberg B-M, Pettersson U (1995a) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4:615-621.
    • (1995) Hum Mol Genet , vol.4 , pp. 615-621
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  • 3
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    • The presence of an IDS-related locus (IDS-2) in Xq28 complicates the mutational analysis of the Hunter syndrome
    • Bondeson M-L, Malmgren H, Dahl N, Carlberg B-M, Pettersson U (1995b) The presence of an IDS-related locus (IDS-2) in Xq28 complicates the mutational analysis of the Hunter syndrome. Eur J Hum Genet 3:219-227.
    • (1995) Eur J Hum Genet , vol.3 , pp. 219-227
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  • 4
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    • Chirgwin JM, Przbyla AE, MacDonald RJ, Rutter WJ (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299.
    • (1979) Biochemistry , vol.18 , pp. 5294-5299
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  • 6
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    • Flomen RH, Green EP, Green PM, Bentley DR, Giannelli F (1993) Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene. Hum Mol Genet 2:5-10.
    • (1993) Hum Mol Genet , vol.2 , pp. 5-10
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  • 10
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    • Jeanpierre M (1987) A rapid method for the purification of DNA from blood. Nucleic Acids Res 15:9611.
    • (1987) Nucleic Acids Res , vol.15 , pp. 9611
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  • 14
    • 0028842154 scopus 로고
    • Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28
    • Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A (1995) Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28. Hum Genet 95: 34-38.
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  • 21


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.