Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers. - Wikidata - wikimedia - TriplyDB

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.

http://www.wikidata.org/entity/Q35196418

about

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection 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 The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South Afr Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.Distribution of a pseudodeficiency allele among Tay-Sachs carriers.

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P2860

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.

http://www.wikidata.org/entity/Q35196418

description

1991 nî lūn-bûn

@nan

1991 թուականի Մարտին հրատարակուած գիտական յօդուած

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1991 թվականի մարտին հրատարակված գիտական հոդված

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1991年の論文

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1991年論文

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1991年論文

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1991年論文

@zh-hk

1991年論文

@zh-mo

1991年論文

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1991年论文

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name

Distribution of three alpha-ch ...... ions among Tay-Sachs carriers.

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Distribution of three alpha-ch ...... ions among Tay-Sachs carriers.

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Distribution of three alpha-ch ...... ions among Tay-Sachs carriers.

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Distribution of three alpha-ch ...... ions among Tay-Sachs carriers.

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Distribution of three alpha-ch ...... ions among Tay-Sachs carriers.

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Distribution of three alpha-ch ...... ions among Tay-Sachs carriers.

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American Journal of Human Genetics

P1476

Distribution of three alpha-ch ...... ions among Tay-Sachs carriers.

@en

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Grebner EE

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Tomczak J

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P2860

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

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

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.

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

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

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

Polymerase chain reaction-generated heteroduplexes from Ashkenazi Tay-Sachs carriers with an insertion mutation can be detected on agarose gels.

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.

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604-607

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scholarly article

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3

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48

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1991-03-01T00:00:00Z

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1825595

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1682969

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