Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia-Reference-Cited by-同舟云学术

Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia

Published:2019-07-11 Issue:8 Volume:21 Page:
ISSN:1099-498X
Container-title:The Journal of Gene Medicine
language:en
Short-container-title:J Gene Med

Author:

Ansari Hossein¹,Mohammadi‐Asl Javad¹²,Hajjari Mohammadreza³,Tahmasebi‐Birgani Maryam¹^ORCID,Kollaee Abolghasem²,Jassemi‐zergani Farzad⁴,Vakili‐Hajiagha Amin⁵

Affiliation:

1. Department of Medical Genetics, School of MedicineAhvaz Jundishapur University of Medical Sciences Ahvaz Iran

2. Noor Genetics Laboratory Ahvaz Iran

3. Department of Genetics, Faculty of SciencesShahid Chamran University of Ahvaz Ahvaz Iran

4. Research Institute for Infectious Disease of Digestive SystemAhvaz Jundishapur University of Medical Sciences Ahvaz Iran

5. Noor Pathobiology and Genetic Laboratory Tehran Iran

Funder

Shahid Chamran University of Ahvaz

Publisher

Wiley

Subject

Genetics(clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3103

Reference26 articles.

1. Early recognition of growth abnormalities permitting early intervention

2. Genetic Evaluation of Short Stature

3. A diagnosis of hypochondroplasia by next generation sequencing

4. Pseudoachondroplasia/COMP — translating from the bench to the bedside

5. Mild Myopathy Is Associated with COMP but Not MATN3 Mutations in Mouse Models of Genetic Skeletal Diseases

Cited by 1 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. A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia;BioMed Research International;2021-03-08