Trio whole-exome sequencing reveals a novel de novo mutation in COL2A1 gene in an Iranian patient with hypochondroplasia

Author:

Karimi Azam Fatemeh,Sohrabi Behnoush,Rahimi Hamzeh,Ganji Maziar

Publisher

Elsevier BV

Subject

Genetics

Reference36 articles.

1. Namaqualand hip dysplasia in South Africa: the molecular determinant elucidated;Agenbag;S. Afr. Med. J.,2021

2. A Heterozygous mutation in the triple helical region of the alpha 1 (II) chain of the COL2A1 protein causes non-lethal spondyloepiphyseal dysplasia congenita;Almatrafi;Genet. Test. Mol. Biomarkers,2019

3. Next generation sequencing (NGS): a golden tool in forensic toolkit;Aly;Arch. Med. Sadowej Kryminol.,2015

4. Mutation update for COL2A1 gene variants associated with type II collagenopathies;Barat-Houari;Hum. Mutat.,2016

5. What is next generation sequencing?;Behjati;Arch. Dis. Child. Educ. Pract.,2013

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