Novel mutations in the FUCA1 gene that cause fucosidosis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel mutations in the FUCA1 gene that cause fucosidosis

Published:2016 Issue:3 Volume:15 Page:
ISSN:1676-5680
Container-title:Genetics and Molecular Research
language:
Short-container-title:Genet. Mol. Res.

Author:

Panmontha W.,Amarinthnukrowh P.,Damrongphol P.,Desudchit T.,Suphapeetiporn K.,Shotelersuk V.

Publisher

Genetics and Molecular Research

Subject

Genetics,Molecular Biology,General Medicine

Link

http://www.funpecrp.com.br/gmr/year2016/vol15-3/pdf/gmr8733.pdf

Cited by 12 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. Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations;Molecular Genetics and Metabolism Reports;2023-12

2. Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme;BMC Medical Genomics;2021-08-23

3. Comparative studies on the substrate specificity and defucosylation activity of three α-l-fucosidases using synthetic fucosylated glycopeptides and glycoproteins as substrates;Bioorganic & Medicinal Chemistry;2021-07

4. Death rates in the U.S. due to Leukodystrophies with pediatric forms;American Journal of Medical Genetics Part A;2021-05-07

5. Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report;Journal of International Medical Research;2021-04

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