Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India (Q28480450)

2

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Frenny Sheth

3

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Daksha Sanghavi

4

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Pratima Kondurkar

5

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Swapnil Patil

6

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Susan Idicula-Thomas

7

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Sarita Gupta

8

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Jayesh Sheth

Creative Commons Attribution 4.0 International

9

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language of work or name

English

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publication date

2012

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published in

PLOS One

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volume

7

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issue

6

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page(s)

e39122

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copyright license

start time

18 June 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

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Biochemical consequences of mutations causing the GM2 gangliosidoses

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A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation

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

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Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

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The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

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Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease

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Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

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2 June 2018

Hexosaminidase assays

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Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

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Structural basis of the GM2 gangliosidosis B variant

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At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population

27 November 2018

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Allele‐specific amplification of genomic DNA for detection of deletion mutations: Identification of a French‐Canadian tay‐sachs mutation

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12 December 2020

Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease

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12 December 2020

Structural consequences of amino acid substitutions causing Tay-Sachs disease

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12 December 2020

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

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12 December 2020

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

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12 December 2020

Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients

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12 December 2020