Distribution of a pseudodeficiency allele among Tay-Sachs carriers.

American journal of human genetics ·Vol. 53 ·No. 2 ·1993-08-00 ·Pages 537-9

Tomczak J, Boogen C, Grebner EE

Abstract

暂无摘要

MeSH Terms

Adult Alleles Base Sequence DNA Mutational Analysis Gene Frequency Genetic Carrier Screening Humans Molecular Sequence Data Point Mutation Tay-Sachs Disease/diagnosis,enzymology,ethnology beta-N-Acetylhexosaminidases/blood,genetics,metabolism

Chemicals

beta-N-Acetylhexosaminidases

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Tomczak J

Boogen C

Grebner E E

References (4)

4 references, click to expand

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.
Am J Hum Genet. 1991 Mar;48(3):604-7 PMID: 1825595
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
N Engl J Med. 1990 Jul 5;323(1):6-12 PMID: 2355960
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Am J Hum Genet. 1992 Oct;51(4):793-801 PMID: 1384323
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
Am J Hum Genet. 1991 Nov;49(5):1041-54 PMID: 1833974

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1993-08-00

Pages

537-9

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1682345

Subset

Corrections

CommentOn

PMID: 1384323

External Links

PubMed source PMC Full Text View journal details

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Distribution of a pseudodeficiency allele among Tay-Sachs carriers.

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