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A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia

✍ Scribed by Yoshito Matsui; Tomoatsu Kimura; Noriyuki Tsumaki; Natsuo Yasui; Takahiro Ochi

Publisher: Nature Publishing Group
Year: 1996
Tongue: English
Weight: 283 KB
Volume: 41
Category: Article
ISSN: 1435-232X
DOI: 10.1007/bf01913178

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## 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