𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

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


Book ID
116349119
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
483 KB
Volume
412
Category
Article
ISSN
0009-8981

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Early-onset metaphyseal chondrodysplasia
✍ Outi Mäkitie; Miki Susic; William G. Cole 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 189 KB

## Abstract Both dominant‐negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frame‐shift mutations of __COL10A1__. This study examines these alternative effects. A proband with typical early‐onset MCD