Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. - Wikidata - awgldk - TriplyDB

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

http://www.wikidata.org/entity/Q35238535

about

An electrochemical sensor for single nucleotide polymorphism detection in serum based on a triple-stem DNA probe

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P2860

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

http://www.wikidata.org/entity/Q35238535

description

1997 nî lūn-bûn

@nan

1997 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի մայիսին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

name

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

@ast

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

@en

type

label

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

@ast

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

@en

prefLabel

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

@ast

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

@en

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American Journal of Human Genetics

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Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease

@en

P2093

Akerman BR

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Campeau E

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Gravel RA

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Kaback MM

http://www.w3.org/2001/XMLSchema#string

Loyer M

http://www.w3.org/2001/XMLSchema#string

Natowicz MR

http://www.w3.org/2001/XMLSchema#string

P2860

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

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

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

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

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies

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

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

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

Tay-Sachs disease screening and diagnosis: evolving technologies.

P304

1099-1106

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scholarly article

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5

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1997-05-01T00:00:00Z

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1712448

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