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

Internet

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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