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Article

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

Personalized medicine - 1 Jan 2024

Anh Luong Thi Lan, Hoang Thu Lan, Tran Duc Phan, Le Thi Mai, Tran Hien, Ho Phuong Thuy, Hoang Huyen Nga, Giang Hoa, Vu Duy Linh, Dinh Nghi Huu, Nguyen Manh Tan, Nguyen Huu Sau

Abstract excerpt

Xeroderma pigmentosum (XP) disorder is recognized as a genetic condition inherited by autosomal recessive fashion. XP results from a defective DNA repair mechanism that significantly increases skin cancer risk. Fifteen Vietnamese patients were investigated with typical clinical manifestations of XP. Eight XP genes (XPA to XPG and POLH/XPV) were sequenced using peripheral blood samples. Overall, three novel...

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Identifiers

PMID: 39655645
DOI: 10.1080/17410541.2024.2393073

Genes

XPA
POLH

Variants

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