Ten novel mutations in the HEXA gene in non-Jewish Tay — Sachs patients-Reference-Cited by-同舟云学术

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Ten novel mutations in the HEXA gene in non-Jewish Tay — Sachs patients

Published:1993 Issue:1 Volume:2 Page:61-67
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Akli Said,Chomel Jean-Claude,Lacorte Jean-Marc,Bachner Lucien,Axel ,Poenaru Livia

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/2/1/61/1544119/2-1-61.pdf

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. Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum;Orphanet Journal of Rare Diseases;2023-03-13

2. Late‐Onset Tay‐Sachs Disease in an Irish Family;Movement Disorders Clinical Practice;2020-10-28

3. In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay‒Sachs disease;Journal of Genetics;2020-05-15

4. Neuropsychiatry in Late Onset Tay-Sachs Disease;Advances in Medical Technologies and Clinical Practice;2020

5. Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling;Molecular Genetics and Metabolism Reports;2019-09

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