(Q34103948)

31 July 2017

title

Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications (English)

1 reference

31 July 2017

Q Li

1

1 reference

31 July 2017

L Török

series ordinal

2

1 reference

31 July 2017

L Kocsis

series ordinal

3

1 reference

31 July 2017

J Uitto

series ordinal

4

1 reference

31 July 2017

language of work or name

English

0 references

publication date

11 May 2010

1 reference

British Journal of Dermatology

31 July 2017

published in

1 reference

31 July 2017

volume

163

1 reference

31 July 2017

issue

3

1 reference

31 July 2017

page(s)

641-643

1 reference

The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933322

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933322

Pseudoxanthoma elasticum is a metabolic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933322

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933322

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933322

Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933322

Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20491760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20491760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20491760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1365-2133.2010.09856.X

1 reference

31 July 2017

1 reference

31 July 2017

1 reference