Mutation analysis of a Japanese patient with fucosidosis-Reference-Cited by-同舟云学术

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Mutation analysis of a Japanese patient with fucosidosis

Published:1999-08 Issue:5 Volume:44 Page:323-326
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Akagi Motohiro,Inui K.,Nishigaki Toshinori,Muramatsu Takashi,Kokubu Chikara,Fu L.,Fukushima Hisao,Yanagihara Itaru,Tsukamoto Hiroko,Kurahashi Hiroki,Okada Shintaro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg199974.pdf

Cited by 8 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. Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series;Genes;2020-11-22

2. Development of a UHPLC-MS method for inhibitor screening against α-L-1,3-fucosidase;Analytical and Bioanalytical Chemistry;2019-02-01

3. Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions;Experimental Dermatology;2018-06

4. A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis;Journal of Clinical Pathology;2018-03-27

5. Novel mutations in the FUCA1 gene that cause fucosidosis;Genetics and Molecular Research;2016

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