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Volumn 57, Issue 4, 2001, Pages 645-650

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

EID: 0035964228     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.4.645     Document Type: Article
Times cited : (121)

References (54)
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    • Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: From Southern blot to protein truncation test
    • (1998) Hum Genet , vol.102 , pp. 334-342
    • Tuffery, S.1    Chambert, S.2    Bareil, C.3
  • 20
    • 0027484533 scopus 로고
    • Point mutation at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in Duchenne muscular dystrophy patients
    • (1993) Hum Mol Genet , vol.2 , pp. 1877-1881
    • Lenk, U.1    Hank, R.2    Theile, H.3    Speer, A.4
  • 35
    • 0004062117 scopus 로고
    • Multiplex PCR for identifying dystrophin gene deletions
    • Current protocols in human genetics. Dracopoli NC, Haines JL, Korf BR, et al., eds. New York: Greene and John Wiley & Sons
    • (1994) , pp. 931-9317
    • Beggs, A.H.1
  • 37
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Nomenclature Working Group
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 40
    • 0032537646 scopus 로고    scopus 로고
    • Weekly clinicopathological exercises. Case 22-1998. A 22-year-old man with a cardiac transplant and creatine kinase elevation
    • Case Records of the Massachusetts General Hospital
    • (1998) N Engl J Med , vol.339 , pp. 182-190
  • 45


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.