Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders
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 congenital limb contractu...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2017-11-01
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| coleção: | Acta Neuropathologica Communications |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s40478-017-0486-9 |
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