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Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2: C48R: A Novel Mutation in AGPAT2

Loss-of-function mutations in AGPAT2, encoding 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), produce congenital generalised lipodystrophy (CGL). We screened the AGPAT2 gene in two siblings who presented with pseudoacromegaly, diabetes and severe dyslipidaemia and identified a novel mutati...

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Hlavní autoři:	Ramanathan, N., Ahmed, M., Raffan, E., Stewart, C. L., O’Rahilly, S., Semple, R. K., Raef, H., Rochford, J. J.
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Springer Berlin Heidelberg 2012
Témata:	Article
On-line přístup:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3565662/ https://ncbi.nlm.nih.gov/pubmed/23430550 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_181
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Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2: C48R: A Novel Mutation in AGPAT2

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