ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones (Q36479000)

14 August 2017

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones (English)

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14 August 2017

Astrid S Plomp

1

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14 August 2017

Ralph J Florijn

2

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14 August 2017

Jacoline Ten Brink

3

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14 August 2017

Bruce Castle

4

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14 August 2017

Helen Kingston

5

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14 August 2017

Ana Martín-Santiago

6

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14 August 2017

Theo G M F Gorgels

7

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14 August 2017

Paulus T V M de Jong

8

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14 August 2017

Arthur A B Bergen

9

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14 August 2017

24 January 2008

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14 August 2017

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14 August 2017

14

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14 August 2017

118-124

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

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Mammalian ABC transporters in health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Mutations in ABCC6 cause pseudoxanthoma elasticum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Transport function and hepatocellular localization of mrp6 in rat liver

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Novel ABCC6 mutations in pseudoxanthoma elasticum

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Analysis of the Frequent R1141X Mutation in theABCC6Gene in Pseudoxanthoma Elasticum

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2254972

Does autosomal dominant pseudoxanthoma elasticum exist?

21 September 2018

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12 December 2020

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

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12 December 2020

Pseudoxanthoma elasticum

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12 December 2020

Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity

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12 December 2020

Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth

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12 December 2020

Mutational analysis of theABCC6 gene and the proximalABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)

1 reference

12 December 2020

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

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12 December 2020

Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

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12 December 2020

Identifiers

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14 August 2017

PubMed publication ID

18253096

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