COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I-Reference-Cited by-同舟云学术

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COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Published:2019-03-04 Issue:5 Volume:7 Page:e619
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wang Mingyuan¹,Guo Yi¹²,Rong Pengfei³,Xu Hongbo¹,Gong Lina⁴,Deng Hao¹⁴^ORCID,Yuan Lamei¹^ORCID

Affiliation:

1. Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China

2. Department of Medical Information Information Security and Big Data Research Institute, Central South University Changsha China

3. Department of Radiology The Third Xiangya Hospital, Central South University Changsha China

4. Department of Neurology The Third Xiangya Hospital, Central South University Changsha China

Funder

National Natural Science Foundation of China

Natural Science Foundation of Hunan Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.619

Reference38 articles.

1. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

2. Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

3. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

4. Gene Targeting of Mutant COL1A2 Alleles in Mesenchymal Stem Cells From Individuals With Osteogenesis Imperfecta

5. A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I;Frontiers in Genetics;2021-06-23

2. Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family;Annals of Translational Medicine;2021-04

3. Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature;Gene;2020-05

4. Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome;Molecular Genetics & Genomic Medicine;2019-07-23

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