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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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書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Chen, Jian‐Hua, Geberhiwot, Tarekegn, Barrett, Timothy G., Paisey, Richard, Semple, Robert K.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2017
主題:
オンライン・アクセス: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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