Novel LMNA gene mutation in a patient with atypical Werner's syndrome

Korean Journal of Internal Medicine

Volumn 24, Issue 1, 2009, Pages 68-72

  Doh, Yun Jeong ^a   Kim, Hee Kyoung ^a   Jung, Eui Dal ^b   Choi, Seung Hee ^a   Kim, Jung Guk ^a   Kim, Bo Wan ^a   Lee, In Kyu ^a  

^a Kyungpook National University School of Medicine   (South Korea)

^b Catholic University of Daegu   (South Korea)

Author keywords

LMNA; Progeroid syndrome; T506del; Werner's syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CELL STRUCTURE; CLINICAL FEATURE; DISEASE SEVERITY; EXON; FATTY LIVER; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERTRIGLYCERIDEMIA; LIPODYSTROPHY; LMNA GENE; METABOLIC DISORDER; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PROGERIA; SKIN FIBROBLAST; WERNER SYNDROME; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; PATHOLOGY; SKIN;

DNA; LAMIN A; LMNA PROTEIN, HUMAN;

ADOLESCENT; DNA; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY; MUTATION; SEQUENCE ANALYSIS, DNA; SKIN; WERNER SYNDROME;

EID: 64249101119     PISSN: 12263303     EISSN: 20056648     Source Type: Journal    
DOI: 10.3904/kjim.2009.24.1.68     Document Type: Article

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