Article
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Molecular genetics & genomic medicine - 1 Jun 2023
Ahangari Najmeh, Gholampour-Faroji Nazanin, Doosti Mohammad, Ghayour Mobarhan Majid, Shahrokhzadeh Sima, Karimiani Ehsan Ghayoor, Hasani-Sabzevar Bahareh, Torbati Paria Najarzadeh, Haddad-Mashadrizeh Aliakbar
Abstract excerpt
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 affected boys and fetus through prenatal diagnosis. METHODS: Whole-exome sequencing data analyzed followed by molecular...
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