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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Chen, Jian‐Hua, Geberhiwot, Tarekegn, Barrett, Timothy G., Paisey, Richard, Semple, Robert K.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2017
Pynciau:
Original Articles
Mynediad Ar-lein: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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