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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Detalles Bibliográficos
Autores principales: Haghighi, Amirreza, Razzaghy-Azar, Maryam, Talea, Ali, Sadeghian, Mahnaz, Ellard, Sian, Haghighi, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Short Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471069/
https://www.ncbi.nlm.nih.gov/pubmed/22902344
http://dx.doi.org/10.1016/j.ejmg.2012.07.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471069/
https://www.ncbi.nlm.nih.gov/pubmed/22902344
http://dx.doi.org/10.1016/j.ejmg.2012.07.011

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