Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis-Reference-Cited by-同舟云学术

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

Published:2021-09-21 Issue:11 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Liang Huanhuan¹^ORCID,Li Niu²³^ORCID,Yao Ru‐en²³^ORCID,Yu Tingting²³,Ding Lixia¹,Chen Jing¹,Wang Jian²³

Affiliation:

1. Key Laboratory of Pediatric Hematology and Oncology Ministry of Health Department of Hematology and Oncology Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai China

2. Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children’s Medical CenterShanghai Jiao Tong University School of Medicine Shanghai China

3. Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics Shanghai China

Funder

Shanghai Municipal Education Commission

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1815

Reference43 articles.

1. Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

2. A founder mutation in theTCIRG1gene causes osteopetrosis in the Ashkenazi Jewish population