Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients-Reference-Cited by-同舟云学术

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Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Published:2009-11 Issue:11 Volume:30 Page:E956-E973
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Tappino Barbara,Chuzhanova Nadia A.,Regis Stefano,Dardis Andrea,Corsolini Fabio,Stroppiano Marina,Tonoli Emmanuel,Beccari Tommaso,Rosano Camillo,Mucha Jan,Blanco Mariana,Szlago Marina,Di Rocco Maja,Cooper David N.,Filocamo Mirella

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Early diagnostic clues of mucolipidosis type II: Significance of radiological findings;American Journal of Medical Genetics Part A;2024-01-24

2. Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations;Frontiers in Pediatrics;2023-07-06

3. Proprotein convertases regulate trafficking and maturation of key proteins within the secretory pathway;Secretory Proteins;2023

4. Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene;Journal of Genetic Engineering and Biotechnology;2021-08-03

5. Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?;Molecular Genetics and Metabolism Reports;2021-03

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