Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder caused by mutations in AGPAT2 and Gng3lg. We screened for mutations in AGPAT2 and Gng3lg in 26 families with CGL and one family with Brunzell syndrome. We found mutations in either AGPAT2 or Gng3lg in all but four prob...

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Библиографические подробности
Главные авторы: Fu, Mao, Kazlauskaite, Rasa, Paiva Baracho, Maria De Fátima, Santos, Maria Goretti Do Nascimento, Brandão-Neto, José, Villares, Sandra, Celi, Francesco S., Wajchenberg, Bernardo L., Shuldiner, Alan R.
Формат: Artigo
Язык:Inglês
Опубликовано: 2004
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3390418/
https://ncbi.nlm.nih.gov/pubmed/15181077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2003-030485
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