Mucolipidosis III gamma is an autosomal recessive disorder with defective phosphorylation and trafficking of lysosomal enzymes. In a Chinese family with three siblings, linkage analysis revealed positive linkage of the family to GNPTG. Direct DNA sequence analysis identified two novel compound heterozygous mutations, c.471delC in exon 7 and IVS4-1G>C, in three patients. The two mutations cause frameshift and abnormal splicing, respectively, and represent the first series of GNPTG mutations in the Chinese population. (C) 2010 Elsevier Inc. All rights reserved.
基金：
Chinese National Natural Science Foundation [30670736, 30972655]; National Basic Research Program of China (973 Program) [2007CB512002]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2010]版：
大类|3 区生物
小类|3 区医学：研究与实验4 区生化与分子生物学4 区遗传学
最新[2025]版：
大类|2 区生物学
小类|2 区遗传学2 区医学：研究与实验3 区内分泌学与代谢
JCR分区：
出版当年[2009]版：
Q2GENETICS & HEREDITYQ2MEDICINE, RESEARCH & EXPERIMENTALQ2BIOCHEMISTRY & MOLECULAR BIOLOGY
最新[2023]版：
Q2ENDOCRINOLOGY & METABOLISMQ2GENETICS & HEREDITYQ2MEDICINE, RESEARCH & EXPERIMENTAL
第一作者单位：[1]Huazhong Univ Sci & Technol, Key Lab Mol Biophys, Minist Educ, Ctr Human Genome Res,Coll Life Sci & Technol, Wuhan 430074, Peoples R China
通讯作者：
通讯机构：[1]Huazhong Univ Sci & Technol, Key Lab Mol Biophys, Minist Educ, Ctr Human Genome Res,Coll Life Sci & Technol, Wuhan 430074, Peoples R China[5]Cleveland Clin, Dept Mol Cardiol, Lerner Res Inst, Cleveland, OH 44195 USA
推荐引用方式(GB/T 7714)：
Gao Yong,Yang Kangjuan,Xu Shujiang,et al.Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma[J].MOLECULAR GENETICS AND METABOLISM.2011,102(1):107-109.doi:10.1016/j.ymgme.2010.09.007.
APA：
Gao, Yong,Yang, Kangjuan,Xu, Shujiang,Wang, Cheng,Liu, Juan...&Liu, Jing Yu.(2011).Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.MOLECULAR GENETICS AND METABOLISM,102,(1)
MLA：
Gao, Yong,et al."Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma".MOLECULAR GENETICS AND METABOLISM 102..1(2011):107-109
