(Q34404110)

2 August 2017

title

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders (English)

1 reference

chromosomal deletion syndrome

2 August 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577470

10 October 2022

author name string

M. De Braekeleer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577470

10 October 2022

P. Hechtman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577470

10 October 2022

E. Andermann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577470

10 October 2022

F. Kaplan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577470

10 October 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=1577470

10 October 2022

publication date

1 April 1992

1 reference

2 August 2017

1 reference

2 August 2017

volume

89

1 reference

2 August 2017

issue

1

1 reference

2 August 2017

page(s)

83-87

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00207048

2 August 2017

exact match

0 references

cites work

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean

1 reference

12 December 2020

Allele‐specific amplification of genomic DNA for detection of deletion mutations: Identification of a French‐Canadian tay‐sachs mutation

1 reference

12 December 2020

Founder effect in familial hyperchylomicronemia among French Canadians of Quebec

1 reference

12 December 2020

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians

1 reference

12 December 2020

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

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

Tay-Sachs disease in Quebec: evidence for a geographic aggregate in the French-Canadian population and identification of a new retardation syndrome with possible linkage to the Tay-Sachs gene

1 reference

12 December 2020

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population

1 reference

12 December 2020

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00207048

1 reference

Dimensions Publication ID

2 August 2017

1042142352

0 references

1 reference