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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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| Publicat a: | JCI Insight |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2016
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| Matèries: | |
| Accés en línia: | 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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