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Whole Exome Sequencing Identifies De Novo Heterozygous CAV1 Mutations Associated with a Novel Neonatal Onset Lipodystrophy Syndrome
Despite remarkable progress in identifying causal genes for many types of genetic lipodystrophies in the last decade, the molecular basis of many extremely rare lipodystrophy patients with distinctive phenotypes remains unclear. We conducted whole exome sequencing of the parents and probands from si...
Gorde:
| Argitaratua izan da: | Am J Med Genet A |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2015
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5086082/ https://ncbi.nlm.nih.gov/pubmed/25898808 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37115 |
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