Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing-Reference-Cited by-同舟云学术

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Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing

Published:2016-12-29 Issue:2 Volume:15 Page:936-940
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:en
Short-container-title:

Author:

Zhang Wenwen,Han Qian,Zhou Min,Ran Feng,Qiao Tong,Yi Long,Liu Changjian,Liu Zhao

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

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. TYROBP as a molecular target in cholangiocarcinoma, renal cancer and abdominal aortic aneurysm;Medicine;2024-01-05

2. The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome;Advances in Dermatology and Allergology;2023

3. Genetics of Aortic Diseases;Diseases of the Aorta;2019

4. A likely pathogenic variant putatively affecting splicing ofPIGAidentified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing;Molecular Genetics & Genomic Medicine;2018-07-04

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