Article

ECEL1 novel mutation in Arthrogryposis Type 5D: A Molecular Dynamic Simulation Study

2020-11-12

Abstract excerpt

<h4>Background: </h4> ECEL1 has been represented 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 reported in a family with 2 affected boy and fetus through prenatal diagnosis. Material and Methods: Whole exome sequencing data analyzed followed...

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Literature Corpus work: e8d4bfd5-9e0d-5c9e-bc26-8d86d7af0d2a
DOI: 10.22541/au.160518606.62434555/v1

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