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Volumn 112, Issue 7, 2002, Pages 549-555

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

EID: 0036098280     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9343(02)01070-7     Document Type: Article
Times cited : (133)

References (30)
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  • 2
    • 0033912260 scopus 로고    scopus 로고
    • Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
    • (2000) Am J Hum Genet , vol.66 , pp. 1192-1198
    • Speckman, R.A.1    Garg, A.2    Du, F.3
  • 4
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 8
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    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van der Kooi, A.J.3
  • 20
    • 0034455698 scopus 로고    scopus 로고
    • Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1776-1782
    • Garg, A.1
  • 21
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    • (2000) Heart , vol.84 , pp. 106-112
    • Elliott, P.1
  • 22
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    • Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    • (1993) J Biol Chem , vol.268 , pp. 16321-16326
    • Lin, F.1    Worman, H.J.2
  • 25
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    • Premature atherosclerosis associated with monogenic insulin resistance
    • (2001) Circulation , vol.103 , pp. 2225-2229
    • Hegele, R.A.1
  • 26
    • 0033755274 scopus 로고    scopus 로고
    • Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
    • (2000) Diabetes , vol.49 , pp. 1958-1962
    • Vigouroux, C.1    Magre, J.2    Vantyghem, M.-C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.