(Q70588366)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

A null allele frequent in non-Jewish Tay-Sachs patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

author name string

S Akli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

J Chelly

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

A Kahn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

L Poenaru

4

1 reference

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12 October 2019

publication date

1 February 1993

1 reference

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12 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

volume

90

1 reference

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12 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

page(s)

614-620

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00202478

12 October 2019

exact match

0 references

cites work

mRNA phenotyping by enzymatic amplification of randomly primed cDNA.

1 reference

12 December 2020

Scanning from an independently specified branch point defines the 3' splice site of mammalian introns

1 reference

12 December 2020

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

1 reference

12 December 2020

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

12 December 2020

Mutagenic deamination of cytosine residues in DNA

1 reference

12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

12 December 2020

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

12 December 2020

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00202478

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8444467%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference