The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.

The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome. Clin Genet. 2017 Dec 18;: Authors: Alzahrani F, Alkeraye S, Alkuraya FS PMID: 29250776 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29250776?dopt=Abstract

Source: Clinical Genetics - December 18, 2017 Category: Genetics & Stem Cells Authors: Alzahrani F, Alkeraye S, Alkuraya FS Tags: Clin Genet Source Type: research

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