A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations-Reference-Cited by-同舟云学术

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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Published:2003-12-01 Issue:12 Volume:40 Page:942-948
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Jakkula E

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 27 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. Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the <i>COMP</i> gene in children;Neuromuscular Diseases;2022-06-09

2. A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance;International Journal of Translational Medicine;2022-06-05

3. Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening;BJR|case reports;2021-03

4. Cartilage Oligomeric Matrix Protein–Derived Peptides Secreted by Cartilage Do Not Induce Responses Commonly Observed during Osteoarthritis;CARTILAGE;2020-09-29

5. Mutations in COMP cause familial carpal tunnel syndrome;Nature Communications;2020-07-20

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