A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family-Reference-Cited by-同舟云学术

A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family

Published:2019-06-18 Issue:8 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ma Keze¹²,Luo Dong²³,Tian Tian⁴,Li Ning¹²,He Xiaoguang¹²,Rao Chunbao²³,Zhong Baimao¹²,Lu Xiaomei²³^ORCID

Affiliation:

1. Department of Neonates Dongguan Children's Hospital Dongguan China

2. Department of Medical and Molecular Genetics Dongguan Institute of Pediatrics Dongguan China

3. Medical Laboratory Dongguan Children's Hospital Dongguan China

4. Department of Pathology The First Affiliated Hospital of Sun Yat‐sen University Guangzhou China

Funder

Dongguan Bureau of Science and Technology for the City Key Programs of Science and Technology

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.825

Reference23 articles.

1. AlphaB‐crystallin in lens development and muscle integrity: A gene knockout approach;Brady J. P.;Investigative Ophthalmology and Visual Science,2001

2. Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

3. AlphaB‐crystallin interacts with intermediate filaments in response to stress;Djabali K.;Journal of Cell Science,1997

4. Myofibrillar myopathy in the genomic context

5. A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

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