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Article

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.

International journal of dermatology - 1 Nov 2015

Sheth Jayesh, Mistri Mehul, Bhavsar Riddhi, Patel Harsh, Sheth Frenny

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Identifiers

PMID: 26227012
DOI: 10.1111/ijd.13022

Genes

XPC

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.PMID 26227012Read ↗

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.Semantic proximity Read ↗

Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene.Semantic proximity Read ↗

A case of xeroderma pigmentosum group C with rare compound heterozygous mutations.Semantic proximity Read ↗

Xeroderma pigmentosum with multiple skin carcinoma and a homogenous XPC mutation: A case report from China and literature review.Semantic proximity Read ↗

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.Semantic proximity Read ↗

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.Semantic proximity Read ↗

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.Semantic proximity Read ↗

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.Semantic proximity Read ↗

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

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.Semantic proximity Read ↗

A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation.Semantic proximity Read ↗

Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.Semantic proximity Read ↗

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