Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the global C-terminal domain of lamin A/C

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1192-1198

  Speckman, Rebecca A ^a   Garg, Abhimanyu ^b   Du, Fenghe ^a   Bennett, Lynda ^a   Veile, Rose ^a   Arioglu, Elif ^c   Taylor, Simeon I ^c   Lovett, Michael ^a   Bowcock, Anne M ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 1Q; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENE LOCATION; GENETIC LINKAGE; HAPLOTYPE; HEART DILATATION; HUMAN; LIPODYSTROPHY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0033912260     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302836     Document Type: Article

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