Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type

International Journal of Medical Sciences

Volumn 10, Issue 6, 2013, Pages 766-770

  Liu, Xiaoyan ^a   Zhang, Xianning ^b   Qiao, Jianjun ^a   Fang, Hong ^a  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b ZHEJIANG UNIVERSITY   (China)

Author keywords

POLH; Xeroderma Pigmentosum

Indexed keywords

DNA DIRECTED DNA POLYMERASE ETA;

ADULT; CASE REPORT; CHINESE; CONSANGUINITY; CONTROLLED STUDY; FAMILY HISTORY; GENE SEQUENCE; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; LENTIGO; MALE; NONSENSE MUTATION; PARAKERATOSIS; POLH GENE; POLYMERASE CHAIN REACTION; REVIEW; SKIN ATROPHY; SKIN BIOPSY; SKIN PIGMENTATION; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM VARIANT;

POLH; XERODERMA PIGMENTOSUM;

ADULT; CHINA; CODON, NONSENSE; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; MALE; PEDIGREE; SKIN NEOPLASMS; XERODERMA PIGMENTOSUM;

EID: 84876525891     PISSN: 14491907     EISSN: None     Source Type: Journal    
DOI: 10.7150/ijms.6095     Document Type: Review

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