A Compound Heterozygous GNPTAB Mutation Causes Mucolipidosis II With Marked Hair Color Change in a Han Chinese Baby

被引：8
|
作者：
Ma, Gwo-Chin [1 ,2 ]
Ke, Yu-Yuan [1 ,3 ]
Chang, Shun-Ping [1 ]
Lee, Dong-Jay [1 ]
Chen, Ming [1 ,4 ,5 ,6 ]
机构：
[1] Changhua Christian Hosp, Dept Genom Med, Changhua, Taiwan
[2] Chung Shan Med Univ, Inst Biochem & Biotechnol, Taichung, Taiwan
[3] Changhua Christian Hosp, Dept Pediat, Changhua, Taiwan
[4] Natl Taiwan Univ, Dept Obstet & Gynecol, Taipei 10764, Taiwan
[5] Natl Chung Hsing Univ, Dept Life Sci, Taichung 40227, Taiwan
[6] Tunghai Univ, Dept Life Sci, Taichung 40704, Taiwan
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 04期
关键词：
PHOSPHOTRANSFERASE ALPHA/BETA-SUBUNITS; GENE; GLCNAC-1-PHOSPHOTRANSFERASE; DISEASE;
D O I：
10.1002/ajmg.a.33834
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：931 / 934
页数：4
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