(Q41762644)

9 October 2017

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area (English)

1 reference

metachromatic leukodystrophy

9 October 2017

1 reference

Heinisch U

1

1 reference

9 October 2017

Zlotogora J

series ordinal

2

1 reference

9 October 2017

Kafert S

series ordinal

3

1 reference

9 October 2017

Gieselmann V

series ordinal

4

1 reference

9 October 2017

language of work or name

English

0 references

publication date

1 January 1995

1 reference

American Journal of Human Genetics

9 October 2017

1 reference

9 October 2017

56

1 reference

9 October 2017

1

1 reference

9 October 2017

51-57

1 reference

Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants

9 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Consanguineous marriage among rural Arabs in Israel.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Vectors for efficient expression in mammalian fibroblastoid, myeloid and lymphoid cells via transfection or infection.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Selection in favor of lysosomal storage disorders?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Inhibition of restriction endonuclease Nci I cleavage by phosphorothioate groups and its application to oligonucleotide-directed mutagenesis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Cloning and expression of human arylsulfatase A

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Krabbe disease in Israel.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Structure of the arylsulfatase A gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Molecular basis of different forms of metachromatic leukodystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Observing the founder effect in human evolution.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation?

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801341

The incidence and genetics of metachromatic leucodystrophy in northern Sweden

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7825603

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7825603

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

9 October 2017

PubMed publication ID

7825603

1 reference