Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population. - Wikidata - awgldk - TriplyDB

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

http://www.wikidata.org/entity/Q37649360

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Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

http://www.wikidata.org/entity/Q37649360

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article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 30 June 2016

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Tay-Sachs Carrier Screening by ...... York City Minority Population.

@en

Tay-Sachs Carrier Screening by ...... York City Minority Population.

@nl

type

label

Tay-Sachs Carrier Screening by ...... York City Minority Population.

@en

Tay-Sachs Carrier Screening by ...... York City Minority Population.

@nl

prefLabel

Tay-Sachs Carrier Screening by ...... York City Minority Population.

@en

Tay-Sachs Carrier Screening by ...... York City Minority Population.

@nl

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Genetic Testing and Molecular Biomarkers

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Tay-Sachs Carrier Screening by ...... York City Minority Population.

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Erica Spiegel

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Gabriel A Lazarin

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Imran S Haque

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Jessica Giordano

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Kathleen Berentsen

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Kelly Brennan

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Nikita Mehta

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Ronald Wapner

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P2860

Carrier screening in individuals of Ashkenazi Jewish descent

Population dynamics of Tay-Sachs disease. I. Reproductive fitness and selection

The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

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

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504-509

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scholarly article

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10.1089/GTMB.2015.0302

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9

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20

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2016-06-30T00:00:00Z

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27362553

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5314723

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