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Refining genotype–phenotype correlation in Alström syndrome through study of primary human fibroblasts
BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype–phenotype correlation has been suggested without assessment of ALMS1 expression. ME...
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| Publié dans: | Mol Genet Genomic Med |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley and Sons Inc.
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5511801/ https://ncbi.nlm.nih.gov/pubmed/28717663 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.296 |
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