Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2-Reference-Cited by-同舟云学术

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Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Published:2021-04-08 Issue: Volume: Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ma Na¹^ORCID,Zhu Zhenhua²,Liu Jing¹,Peng Ying¹^ORCID,Zhao Xiaomeng³,Tang Weiling³,Jia Zhengjun¹,Xi Hui¹^ORCID,Gao Bodi³,Wang Hua¹⁴,Du Juan³⁵^ORCID

Affiliation:

1. Department of Medical Genetics Hunan Provincial Maternal and Child Health Care Hospital Changsha PR China

2. Department of General Surgery Changsha Central Hospital Changsha PR China

3. Reproductive and Genetic Hospital of CITIC‐Xiangya Changsha PR China

4. National Health Commission Key Laboratory of Birth Defects ResearchPrevention and Treatment Changsha PR China

5. Institute of Reproductive and Stem Cell Engineering School of Basic Medical Science Central South University Changsha PR China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1632

Reference16 articles.

1. Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly

2. Development of a Functional Skin Matrix Requires Deposition of Collagen V Heterotrimers

3. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients

4. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

5. Type V Collagen in Health, Disease, and Fibrosis

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1. A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system;American Journal of Medical Genetics Part A;2024-08-02

2. Naturally occurring genetic diseases caused by de novo variants in domestic animals;Animal Genetics;2024-02-07

3. ENTPD1-AS1–miR-144-3p-mediated high expression of COL5A2 correlates with poor prognosis and macrophage infiltration in gastric cancer;World Journal of Gastrointestinal Oncology;2023-07-15

4. Identification of Potential Diagnostic and Prognostic Biomarkers for Gastric Cancer Based on Bioinformatic Analysis;Journal of Environmental Pathology, Toxicology and Oncology;2023

5. Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease;Mutation Research/Reviews in Mutation Research;2022-07

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