Article
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
Human mutation - 1 Oct 2005
Paik Kyung Hoon, Song Seng Mi, Ki Chang Seok, Yu Han-Wook, Kim Jung Sim, Min Ki Hoon, Chang Soo Hee, Yoo Eun Jae, Lee In Jung, Kwan Eun Kyung, Han Sun Joo, Jin Dong-Kyu
Abstract excerpt
Mucolipidosis types II and III are autosomal recessive inherited diseases caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1 phosphotransferase (GlcNAc-phosphotransferase), which adds phosphate to function as a recognition marker for the uptake and transport of lysosomal enzymes. We investigated mutations in the GNPTA (MGC4170) gene, which codes for the alpha/beta subunits of phosphotransferase,...
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