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The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers‐Danlos syndrome
Author(s) -
Alzahrani F.,
Alkeraye S.,
Alkuraya F.S.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13131
Subject(s) - ehlers–danlos syndrome , exon , genetics , mutation , rna splicing , biology , microbiology and biotechnology , gene , medicine , pathology , rna