(Q28243577)

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1 October 2022

5

S Melançon

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author name string

P. Hechtman

1

1 reference

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1 October 2022

B. Boulay

2

1 reference

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1 October 2022

M. De Braekeleer

3

1 reference

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1 October 2022

E. Andermann

4

1 reference

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1 October 2022

S. Melançon

5

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1 October 2022

J. Larochelle

6

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1 October 2022

C. Prevost

7

1 reference

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1 October 2022

F. Kaplan

8

1 reference

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Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

1 October 2022

language of work or name

English

0 references

publication date

December 1992

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published in

Human Genetics

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volume

90

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issue

4

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page(s)

402-6

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cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Preparation of crude cell extract suitable for amplification of RNA by the polymerase chain reaction.

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians

1 reference

12 December 2020

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

1 reference

12 December 2020

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

1 reference

12 December 2020

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers

1 reference

12 December 2020

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

1 reference

12 December 2020

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

12 December 2020

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

1 reference

12 December 2020

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease

1 reference

12 December 2020

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population

1 reference

12 December 2020

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

1 reference

12 December 2020

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1 reference

12 December 2020

Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease

1 reference

12 December 2020

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

1 reference

12 December 2020

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family

1 reference

12 December 2020

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

1 reference

12 December 2020

Dimensions Publication ID

Identifiers

DOI

10.1007/BF00220467

0 references

1013691201

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