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Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy

Despite identification of causal genes for various lipodystrophy syndromes, the molecular basis of some peculiar lipodystrophies remains obscure. In an African-American pedigree with a novel autosomal dominant, atypical familial partial lipodystrophy (FPLD), we performed linkage analysis for candida...

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Foilsithe in:JCI Insight
Main Authors: Garg, Abhimanyu, Sankella, Shireesha, Xing, Chao, Agarwal, Anil K.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Clinical Investigation 2016
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4927009/
https://ncbi.nlm.nih.gov/pubmed/27376152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.86870
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