학술논문
A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.
Document Type
Article
Author
Source
Subject
*XERODERMA pigmentosum
*PHENOTYPES
*EXONS (Genetics)
*NUCLEOTIDE sequence
*GENETIC mutation
*MICROSATELLITE repeats
*GENETIC markers
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Language
ISSN
0022-1333
Abstract
The article focuses on the case of a Tunisian patient with mild clinical phenotype that may be possibly identified as xeroderma pigmentosum variant (XP-V). It presents molecular and genetic analyses of POLH gene in the patient. It says that genetic mutations have been screened through direct exon sequencing of the POLH gene. It mentions that POHL gene linkage was performed through informative microsatellite markers.