Article
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.
The Journal of clinical endocrinology and metabolism - 1 May 2004
Ebihara Ken, Kusakabe Toru, Masuzaki Hiroaki, Kobayashi Nozomi, Tanaka Tomohiro, Chusho Hideki, Miyanaga Fumiko, Miyazawa Takashi, Hayashi Tatsuya, Hosoda Kiminori, Ogawa Yoshihiro, Nakao Kazuwa
Abstract excerpt
Congenital generalized lipodystrophy (CGL), Berardinelli-Seip syndrome, is a rare metabolic disorder characterized by a near total lack of adipose tissue from birth or early infancy. Recently, seipin, encoding a 398-amino acid protein of unknown function, and AGPAT2, encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase 2, were identified as causative genes for CGL. Seipin mutations were found in patients from...
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