Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.-Reference-Cited by-同舟云学术

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Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Published:1992-05-15 Issue:10 Volume:89 Page:4583-4587
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Horton W. A.,Machado M. A.,Ellard J.,Campbell D.,Bartley J.,Ramirez F.,Vitale E.,Lee B.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Cited by 78 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

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2. Integrated analysis ofCOL2A1variant data and classification of type II collagenopathies;Clinical Genetics;2019-12-06

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4. A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss;American Journal of Medical Genetics Part A;2017-03-21

5. Molecular genetics of the COL2A1-related disorders;Mutation Research/Reviews in Mutation Research;2016-04

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