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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 characterized by ocular phenotypes in addition to the congenital limb contractures that...

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Detalles Bibliográficos
Autores principales:	Nagata, Kenichi, Takahashi, Mika, Kiryu-Seo, Sumiko, Kiyama, Hiroshi, Saido, Takaomi C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683451/ https://www.ncbi.nlm.nih.gov/pubmed/29132416 http://dx.doi.org/10.1186/s40478-017-0486-9

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