Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Jan;102(1):107-9.
doi: 10.1016/j.ymgme.2010.09.007. Epub 2010 Sep 27.

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma

Yong Gao  1 , Kangjuan Yang, Shujiang Xu, Cheng Wang, Juan Liu, Zibo Zhang, Mingxiong Yuan, Xiaoping Luo, Mugen Liu, Qing K Wang, Jing Yu Liu
Affiliations

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma

Yong Gao et al. Mol Genet Metab. 2011 Jan.

Abstract

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Publication types

Substances

LinkOut - more resources