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Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disease characterized by the generalized scant of adipose tissue. CGL type 1 is caused by mutations in gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). A clinical and molecular genetic investigation was perfor...
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| Main Authors: | , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Elsevier
2012
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3471069/ https://ncbi.nlm.nih.gov/pubmed/22902344 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2012.07.011 |
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