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Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy
Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal i...
שמור ב:
| הוצא לאור ב: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2017
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5392360/ https://ncbi.nlm.nih.gov/pubmed/28272537 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.23 |
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