Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders
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DOI: 10.1186/s40478-017-0486-9
Abstract: Endothelin-converting enzyme-like 1 (ECEL1, also termed DINE in rodents), a membrane-bound metalloprotease, has been identified as a gene responsible for distal arthrogryposis (DA). ECEL1-mutated DA is generally characterized by ocular phenotypes in addition to the… read more here.
Keywords: knock; functional consequences; congenital contracture; ecel1 dine ... See more keywords