Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA-Reference-Cited by-同舟云学术

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

Published:2005 Issue:4 Volume:26 Page:308-314
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Bovine UDP-N-acetylglucosamine:Lysosomal-enzyme N-Acetylglucosamine-1-phosphotransferase I

2. Bovine UDP-N-acetylglucosamine:Lysosomal-enzyme N-Acetylglucosamine-1-phosphotransferase

3. I-Cell Disease Presenting with Severe Hypophosphatemia and Cardiomyopathy

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