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

Abstract 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 af...

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Principais autores: Najmeh Ahangari, Nazanin Gholampour‐Faroji, Mohammad Doosti, Majid Ghayour Mobarhan, Sima Shahrokhzadeh, Ehsan Ghayoor Karimiani, Bahareh Hasani‐sabzevar, Paria Najarzadeh Torbati, Aliakbar Haddad‐Mashadrizeh
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2023-06-01
coleção:Molecular Genetics & Genomic Medicine
Assuntos:
arthrogryposis
bioinformatics
ECEL1
genetics
molecular dynamics simulation
Acesso em linha:https://doi.org/10.1002/mgg3.2153
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