(Q54453517)

English

A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis. (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

Canavan disease

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

A Caliebe

1

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

I Vater

2

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

H Plendl

3

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

S Gesk

4

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

R Siebert

5

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

F W Cremer

6

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

L Klein-Hitpass

7

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

publication date

20 October 2009

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

99

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

2

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

184-185

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.011

7 January 2021

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.011

7 January 2021

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.011

7 January 2021

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.10.011

7 January 2021

Identifiers

10.1016/J.YMGME.2009.10.011

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19932039

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