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 ...

from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2AFRaiq