Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group (Q33578402)

28 July 2017

title

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

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28 July 2017

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Myerowitz R

1

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28 July 2017

language of work or name

English

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publication date

1 June 1988

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Proceedings of the National Academy of Sciences of the United States of America

28 July 2017

published in

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28 July 2017

volume

85

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28 July 2017

issue

11

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28 July 2017

page(s)

3955-3959

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A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing

28 July 2017

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21 June 2018

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Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

21 June 2018

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Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

21 June 2018

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Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

21 June 2018

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 June 2018

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Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

21 June 2018

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

21 June 2018

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The Biochemical Basis of Gangliosidoses

21 June 2018

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cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

21 June 2018

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21 June 2018

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Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

21 June 2018

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[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

21 June 2018

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Cloning and sequence analysis of the mouse genomic locus encoding the largest subunit of RNA polymerase II.

21 June 2018

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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

21 June 2018

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Organization of the gene encoding the human beta-hexosaminidase alpha-chain

21 June 2018

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A rapid biochemical method for purifying lambda DNA from phage lysates

21 June 2018

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Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain

21 June 2018

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21 June 2018

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Nucleotide sequence of the gene for human prothrombin

21 June 2018

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A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease

21 June 2018

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A rapid alkaline extraction procedure for screening recombinant plasmid DNA

21 June 2018

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DNA sequencing with chain-terminating inhibitors

21 June 2018

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Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts

21 June 2018

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12 December 2020

Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene

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12 December 2020

Rapid purification of plasmid DNA by a single centrifugation in a two-step cesium chloride-ethidium bromide gradient

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12 December 2020

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

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12 December 2020

Mutation in GM2-gangliosidosis B1 variant

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12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

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12 December 2020

Identifiers

DOI

10.1073/PNAS.85.11.3955

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28 July 2017

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28 July 2017

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