(Q33954043)

30 July 2017

title

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program (English)

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30 July 2017

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R Rozenberg

1

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30 July 2017

L da V Pereira

series ordinal

2

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30 July 2017

language of work or name

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1 July 2001

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Sao Paulo Medical Journal

30 July 2017

published in

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30 July 2017

volume

119

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30 July 2017

issue

4

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30 July 2017

page(s)

146-149

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Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

Assignment of β-hexosaminidase A α-subunit to human chromosomal region 15q23→q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

Prenatal diagnosis of Tay-Sachs disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

Tay-Sachs Disease: Prenatal Diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

Tay-Sachs disease carrier screening: a model for prevention of genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS1516-31802001000400007

10.1590/S1516-31802001000400007

21 January 2018

Identifiers

DOI

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30 July 2017

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