A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 7, 2006, Pages 2689-2695

  Morel, Chantal F ^a   Thomas, Mary Ann ^a   Cao, Henian ^c   O'Neil, Caroline H ^c   Pickering, J Geoffrey ^c,d   Foulkes, William D ^a,b   Hegele, Robert A ^c,d  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c ROBARTS RESEARCH INSTITUTE   (Canada)

^d WESTERN UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; EMERIN; LAMIN A; LAMIN C; MESSENGER RNA;

ACANTHOSIS NIGRICANS; ADULT; ANTHROPOMETRY; ARTICLE; CELL NUCLEUS MEMBRANE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSENSUS; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE SEVERITY; DNA SEQUENCE; DONOR SITE; FAMILIAL DISEASE; FEMALE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HYPERTENSION; HYPERTRIGLYCERIDEMIA; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOPRECIPITATION; INSULIN RESISTANCE; LIPODYSTROPHY; LMNA GENE; MISSENSE MUTATION; NUCLEAR LAMINA; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PUBERTY; RNA SPLICING; SOUTH ASIA; TREATMENT OUTCOME; VASCULAR DISEASE; WESTERN BLOTTING;

ACANTHOSIS NIGRICANS; ADULT; ASIA; BLOTTING, WESTERN; CANADA; DIABETES MELLITUS, LIPOATROPHIC; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HETEROZYGOTE; HUMANS; HYPERTENSION; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; INTRONS; LAMIN TYPE A; MEMBRANE PROTEINS; MICROSCOPY, FLUORESCENCE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; RNA SPLICING; RNA, MESSENGER; THYMOPOIETINS; TRANSFECTION;

EID: 33745791143     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2746     Document Type: Article

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