Dideoxyfingerprinting (ddF) Analysis of the Type X Collagen Gene (COL10A1) and Identification of a Novel Mutation (S671P) in a Kindred with Schmid Metaphyseal Chondrodysplasia-Reference-Cited by-同舟云学术

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Dideoxyfingerprinting (ddF) Analysis of the Type X Collagen Gene (COL10A1) and Identification of a Novel Mutation (S671P) in a Kindred with Schmid Metaphyseal Chondrodysplasia

Published:1996-12 Issue:2 Volume:59 Page:112-117
ISSN:1077-3150
Container-title:Biochemical and Molecular Medicine
language:en
Short-container-title:Biochemical and Molecular Medicine

Author:

Stratakis Constantine A.,Orban Zsolt,Burns A.Lee,Vottero Alessandra,Mitsiades Constantine S.,Marx Stephen J.,Abbassi Val,Chrousos George P.

Publisher

Elsevier BV

Subject

Biochemistry

Cited by 12 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 novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage;Bone Reports;2020-06

3. A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family;Heredity;2017-11-10

4. Col10a1 gene expression and chondrocyte hypertrophy during skeletal development and disease;Frontiers in Biology;2014-06

5. A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid;Clinica Chimica Acta;2011-06

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