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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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| Pubblicato in: | JCI Insight |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Clinical Investigation
2016
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| Soggetti: | |
| Accesso online: | 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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