Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Published:2012-04-11 Issue:5 Volume:158A Page:1225-1228
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Coutinho Maria Francisca,Santos Liliana da Silva,Girisha Katta Mohan,Satyamoorthy Kapaettu,Lacerda Lúcia,Prata Maria João,Alves Sandra

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. Sorting of lysosomal proteins;Braulke;Biochim Biophys Acta.,2009

2. Phenotype and genotype in mucolipidoses II and III alpha/beta: A study of 61 probands;Cathey;J Med Genet,2010

3. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism;Marschner;Science,2011

4. Mucolipidosis II and III alpha/beta: Mutation analysis of 40 Japanese patients showed genotype-phenotype correlation;Otomo;J Hum Genet,2009

Cited by 10 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. Structural and Functional Insights into the Stealth Protein CpsY of Mycobacterium tuberculosis;Biomolecules;2023-11-03

2. Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience;Journal of Clinical Medicine;2022-03-02

3. Mucolipidoses Overview: Past, Present, and Future;International Journal of Molecular Sciences;2020-09-17

4. Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta;Human Mutation;2019-10-14

5. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations;Human Mutation;2019-04-13

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3