(Q41666996)

6 October 2017

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

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

6 December 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

6 December 2022

author name string

S. Akli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1837283

6 December 2022

J. Chelly

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1837283

6 December 2022

J. M. Lacorte

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1837283

6 December 2022

L. Poenaru

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1837283

6 December 2022

A. Kahn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1837283

6 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1837283

6 December 2022

publication date

1 September 1991

1 reference

full work available at URL

6 October 2017

https://api.elsevier.com/content/article/PII:088875439190109R?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

https://api.elsevier.com/content/article/PII:088875439190109R?httpAccept=text/plain

6 December 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

6 December 2022

1 reference

6 October 2017

11

1 reference

6 October 2017

124-134

1 reference

6 October 2017

1

1 reference

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

6 October 2017

2

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

6 December 2022

4

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Chemical reactivity of matched cytosine and thymine bases near mismatched and unmatched bases in a heteroduplex between DNA strands with multiple differences

6 December 2022

6

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Premature translation termination mediates triosephosphate isomerase mRNA degradation

6 December 2022

8

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Mutagenic deamination of cytosine residues in DNA

6 December 2022

10

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

6 December 2022

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue

6 December 2022

13

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Identification of the cystic fibrosis gene: genetic analysis

6 December 2022

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

Expression of a beta thalassemia gene with abnormal splicing

6 December 2022

17

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

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

6 December 2022

19

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

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

6 December 2022

21

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

6 December 2022

23

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

6 December 2022

24

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

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

6 December 2022

26

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

mRNA phenotyping by enzymatic amplification of randomly primed cDNA.

6 December 2022

27

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

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

6 December 2022

29

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

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

6 December 2022

31

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

6 December 2022

37

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90109-R

6 December 2022

Identifiers

1 reference

6 October 2017

1 reference