Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders
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 ...
Acta Neuropathologica Communications 2017 5:83
Published on: 13 November 2017