A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid-Reference-Cited by-同舟云学术

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A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid

Published:2011-06 Issue:13-14 Volume:412 Page:1266-1269
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Zhu Yimin,Li Liping,Zhou Lijun,Mei Haibo,Jin Ke,Liu Kun,Xu Wei,Tang Jinsong,Yang Yongjia,Zhao Rui,He Xinyu

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference23 articles.

1. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia;Warman;Nat Genet,1993

2. Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia;Stratakis;Biochem Mol Med,1996

3. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia;Matsui;J Hum Genet.,2000

4. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia;Bateman;Hum Mutat,2005

5. Immuno-histochemical localization of short chain cartilage collagen (type X) in avian tissues;Schmid;J Cell Biol,1985

Cited by 9 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 Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid;iScience;2024-04

2. A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1;Molecular Syndromology;2019

3. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation;The Indian Journal of Pediatrics;2018-09-12

4. Schmid Metaphyseal Chondrodysplasia;Atlas of Genetic Diagnosis and Counseling;2017

5. Schmid Metaphyseal Chondrodysplasia;Atlas of Genetic Diagnosis and Counseling;2016

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