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 (vol 66, pg 1192, 2000)

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Speckman
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AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 03期
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Q3 [遗传学];
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071007 ; 090102 ;
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  • [1] 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
    Speckman, RA
    Garg, A
    Du, FH
    Bennett, L
    Veile, R
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    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (04) : 1192 - 1198
  • [2] Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations
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    CLINICAL GENETICS, 2010, 78 (01) : 66 - 73
  • [3] Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene
    Garg, A
    Vinaitheerthan, M
    Weatherall, PT
    Bowcock, AM
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (01): : 59 - 65
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