A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation-Reference-Cited by-同舟云学术

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A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

Published:1992-12-01 Issue:9 Volume:1 Page:759-761
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Fernandes M.,Kaplan F.,Natowicz M.,Prence E.,Kolodny E.,Kaback M.,Hachtman P.

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/1/9/759/1972913/1-9-759.pdf

Cited by 37 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. In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay‒Sachs disease;Journal of Genetics;2020-05-15

2. The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015;Journal of Genetic Counseling;2020-04-17

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

4. Tay-Sachs disease: current perspectives from Australia;The Application of Clinical Genetics;2015-01

5. Next‐generation DNA sequencing of HEXA : a step in the right direction for carrier screening;Molecular Genetics & Genomic Medicine;2013-09-16

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