Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

about

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

P2860

Q34402430-D95FEBD1-8D02-405F-8931-B6E49EAEBCA1 Q35238535-80947B78-9187-4ECD-9E82-43F234E0B7AA

P2860

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Item

http://www.wikidata.org/entity/Q41990196

description

1996 nî lūn-bûn

@nan

1996年の論文

@ja

1996年論文

@yue

1996年論文

@zh-hant

1996年論文

@zh-hk

1996年論文

@zh-mo

1996年論文

@zh-tw

1996年论文

@wuu

1996年论文

@zh

1996年论文

@zh-cn

name

Heterozygosity for Tay-Sachs d ...... from Ireland or Great Britain.

@en

type

Item

label

Heterozygosity for Tay-Sachs d ...... from Ireland or Great Britain.

@en

prefLabel

Heterozygosity for Tay-Sachs d ...... from Ireland or Great Britain.

@en

P1476

Heterozygosity for Tay-Sachs d ...... from Ireland or Great Britain.

@en

P2093

E E Grebner

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

E M Prence

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

J Tomczak

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

M R Natowicz

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

M van Bael

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

P2860

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

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

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada

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

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.

Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.

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

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

P304

829-832

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

P31

scholarly article

P356

10.1136/JMG.33.10.829

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

P407

English

P433

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

P478

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

P577

1996-10-01T00:00:00Z

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

P5875

14274512

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

P698

8933335

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

P932

1050761

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

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

about

P2860

P2860

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932