HuGE Literature Finder
|
Records 1-2
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.
American journal of medical genetics. Part A 2015 Dec . Arroyo Carrera Ignacio, de Zaldívar María Solo, Martín Rebeca, Begemann Matthias, Soellner Lukas, Eggermann Thom |
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Molecular genetics and metabolism 2010 May 100 (1): 37-41. Fukao Toshiyuki, Nguyen Hoan Thi, Nguyen Nhan Thu, Vu Dung Chi, Can Ngoc Thi Bich, Pham Anh Thi Van, Nguyen Khanh Ngoc, Kobayashi Hironori, Hasegawa Yuki, Bui Thao Phuong, Niezen-Koning Kary E, Wanders Ronald J A, de Koning Tom, Nguyen Liem Thanh, Yamaguchi Seiji, Kondo Nao |
- Page last reviewed:Jul 30, 2019
- Page last updated:Dec 5, 2019
- Content source: