A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia-Reference-Cited by-同舟云学术

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A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia

Published:2016-06-09 Issue:1 Volume:3 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Luo Huaichao,Yu Sisi,Lin Ying,Guo Qi,Ma Rongchuan,Ye Zimeng,Di Yanan,Li Ning,Miao Yuanying,Zhou Yu,Li Yuanfeng,Yang Jiyun,Yang Zhenglin

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv20169.pdf

Reference25 articles.

1. Briggs MD, Chapman KL . Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002; 19: 465–478.

2. Posey KL, Alcorn JL, Hecht JT . Pseudoachondroplasia/COMP—translating from the bench to the bedside. Matrix Biol 2014; 37: 167–173.

3. He J, Wu J, Jiao Y, Wagner-Johnston N, Ambinder RF, Diaz LA Jr et al. IgH gene rearrangements as plasma biomarkers in Non-Hodgkin’s lymphoma patients. Oncotarget 2011; 2: 178–185.

4. Wu J, Matthaei H, Maitra A, Dal Molin M, Wood LD, Eshleman JR et al. Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development. Sci Transl Med 2011; 3: 92ra66.

5. Cox MP, Peterson DA, Biggs PJ . SolexaQA: at-a-glance quality assessment of Illumina second-generation sequencing data. BMC Bioinformatics 2010; 11: 485.

Cited by 5 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. Shoulder arthroplasty in dwarfism: A case report of pseudoachondroplasia with 17-year follow-up;Orthopedic Reviews;2021-03-31

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

3. Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia;Applied Immunohistochemistry & Molecular Morphology;2021-02-15

4. 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

5. Pseudoachondroplasia;Atlas of Genetic Diagnosis and Counseling;2016

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