✦ LIBER ✦

A novel deletion inTNNI2causes distal arthrogryposis in a large Chinese family with marked variability of expression

✍ Scribed by Miao Jiang; Xiuli Zhao; Weitian Han; Chaoying Bian; Xuefu Li; Ge Wang; Yang Ao; Yunqing Li; Dongxu Yi; Yang Zhe; Wilson H. Y. Lo; Xue Zhang; Jianxin Li

Publisher: Springer
Year: 2006
Tongue: English
Weight: 320 KB
Volume: 120
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-006-0183-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dominant distal arthrogryposis in a Maor

Dominant distal arthrogryposis in a Maori family with marked variability of expression

✍ Klemp, Patrick ;Hall, Judith G. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 526 KB

A novel 17 bp deletion in the PHOX2B gen

A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

✍ Andreas Holzinger; Rashmi A. Mittal; Walter Kachel; Helga Priessmann; Markus Ham 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 2 views

Human glycine decarboxylase gene (GLDC)

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (?GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

✍ M. Takayanagi; S. Kure; Y. Sakata; Y. Kurihara; Y. Ohya; M. Kajita; K. Tada; Y. 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 493 KB