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

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Journal of genetics - 1 Dec 2011

Ben Rekaya Mariem, Messaoud Olfa, Mebazaa Amel, Riahi Olfa, Azaiez Hela, Kefi Rim, Zghal Mohamed, Boubaker Samir, Amouri Ahlem, Ben Osman-Dhahri Amel, Abdelhak Sonia, Mokni Mourad

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 Aged
Share to Carcinoma, Squamous Cell
Share to DNA-Directed DNA Polymerase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Pedigree

Share to Skin Neoplasms

Share to Tunisia

Share to Xeroderma Pigmentosum

Source

Identifiers

PMID: 22227937
DOI: 10.1007/s12041-011-0101-y

Genes

POLH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.PMID 22227937Read ↗

Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl.Semantic proximity Read ↗

A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.Semantic proximity Read ↗

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular EtiologySemantic proximity Read ↗

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.Semantic proximity Read ↗

Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.Semantic proximity Read ↗

POLR3A-related disorders: expanding the clinical phenotype.Semantic proximity Read ↗

Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India.Semantic proximity Read ↗

Importance of genotype-phenotype correlation in xeroderma pigmentosum.Semantic proximity Read ↗

Identification of novel variants of XPA and POLH/XPV genes in xeroderma pigmentosum patients in Vietnam.Semantic proximity Read ↗

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.Semantic proximity Read ↗

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.Semantic proximity Read ↗

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosisSemantic proximity Read ↗

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