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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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| Udgivet i: | Acta Neuropathol Commun |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5683451/ https://ncbi.nlm.nih.gov/pubmed/29132416 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-017-0486-9 |
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