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

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference16 articles.

1. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization;Kornfeld,2001

2. Mucolipidosis III type C: first trimester biochemical and molecular prenatal diagnosis;Falik-Zaccai;Prenat. Diagn.,2003

3. Mucolipidosis III (pseudo-Hurler polydystrophy): clinical and laboratory studies in a series of 12 patients, Johns;Kelly;Hopkins. Med. J.,1975

4. Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) and its mutations in mucolipidosis III;Raas-Rothschild;J. Med. Genet.,2004

5. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III—identification of eight novel mutations;Encarnacao;Clin. Genet.,2009

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