ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study

BACKGROUND: ECEL1 has been presented as a causal gene of an autosomal recessive form distal arthrogryposis (DA) which affects the distal joints. The present study focused on bioinformatic analysis of a novel mutation in ECEL1, c.535A>G (p. Lys179Glu), which was reported in a family with 2 affecte...

Descripción completa

Detalles Bibliográficos
Autores principales: Ahangari, Najmeh, Gholampour‐Faroji, Nazanin, Doosti, Mohammad, Ghayour Mobarhan, Majid, Shahrokhzadeh, Sima, Karimiani, Ehsan Ghayoor, Hasani‐sabzevar, Bahareh, Torbati, Paria Najarzadeh, Haddad‐Mashadrizeh, Aliakbar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265054/
https://www.ncbi.nlm.nih.gov/pubmed/36794879
http://dx.doi.org/10.1002/mgg3.2153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265054/
https://www.ncbi.nlm.nih.gov/pubmed/36794879
http://dx.doi.org/10.1002/mgg3.2153

Ejemplares similares