Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases (Q34399100)

1 August 2017

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title

Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases (English)

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1 August 2017

Eng CM

1

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1 August 2017

Desnick RJ

series ordinal

2

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1 August 2017

publication date

1 January 2001

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1 August 2017

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1 August 2017

volume

44

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1 August 2017

page(s)

275-296

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Familial dysautonomia is caused by mutations of the IKAP gene

1 August 2017

cites work

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Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

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The Bloom's syndrome gene product is homologous to RecQ helicases

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Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay

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Diversity of cystic fibrosis mutation-screening practices

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Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

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Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

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Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

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Canavan disease: from spongy degeneration to molecular analysis

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The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

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7 January 2021

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

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Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

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Disorders of DNA replication and repair

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7 January 2021

10.1016/S0065-2660(01)44086-7

Identifiers

DOI

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1 August 2017

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