Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The British journal of dermatology - 1 Sept 2010

Li Q, Török L, Kocsis L, Uitto J

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to DNA Mutational Analysis
Share to Genotype
Share to Multidrug Resistance-Associated Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Pseudoxanthoma Elasticum

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 20491760
DOI: 10.1111/j.1365-2133.2010.09856.x
PMCID: PMC2933322

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.PMID 20491760Read ↗

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.Semantic proximity Read ↗

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.Semantic proximity Read ↗

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.Semantic proximity Read ↗

Novel ABCC6 mutations in pseudoxanthoma elasticum.Semantic proximity Read ↗

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.Semantic proximity Read ↗

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.Semantic proximity Read ↗

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

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.Semantic proximity Read ↗

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Semantic proximity Read ↗

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.Semantic proximity Read ↗

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.Semantic proximity Read ↗

ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.