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Volumn 22, Issue 10, 1999, Pages 1437-1441

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

Author keywords

Borderline; Facioscapulohumeral muscular dystrophy; Variable expressivity

Indexed keywords

DNA;

EID: 0032835742     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199910)22:10<1437::AID-MUS15>3.0.CO;2-7     Document Type: Article
Times cited : (23)

References (19)
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  • 3
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  • 4
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    • Funakoshi, M.1    Goto, K.2    Arahata, K.3
  • 6
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    • Genetics of facioscapulohumeral muscular dystrophy: New mutations in sporadic cases
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  • 7
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  • 8
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    • Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generation effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
    • Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generation effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4:951-958.
    • (1995) Hum Mol Genet , vol.4 , pp. 951-958
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  • 13
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    • Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression
    • Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maruschio P, Tiepolo L, Ferlini A. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J Med Genet 1998;35:778-783.
    • (1998) J Med Genet , vol.35 , pp. 778-783
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.