A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia
Author:
Funder
Chongqing Health and Family Planning Commission
Publisher
Elsevier BV
Subject
Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry
Reference31 articles.
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1. Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP;Annals of Human Genetics;2023-07-18
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3. The Mechanism and Role of ADAMTS Protein Family in Osteoarthritis;Biomolecules;2022-07-08
4. A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia;BioMed Research International;2021-03-08
5. Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia;The Journal of Gene Medicine;2019-07-11
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