xeroderma pigmentosum : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 3 페이지: 1

Xeroderma Pigmentosum - 새창 A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.
Synonyms : Kaposi's Disease, Kaposis Disease
Xeroderma Pigmentosum Group A Protein - 새창 A ZINC FINGER MOTIF protein that recognizes and interacts with damaged DNA. It is a DNA-binding protein that plays an essential role in NUCLEOTIDE EXCISION REPAIR. Mutations in this protein are associated with the most severe form of XERODERMA PIGMENTOSUM.
Synonyms : XPA Nucleotide Excision Repair Protein, XPA Repair Protein, Xeroderma Pigmentosum Group A Complementing Protein, Xeroderma Pigmentosum-A Protein, Xeroderma Pigmentosum A Protein
Xeroderma Pigmentosum Group D Protein - 새창 A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.
Synonyms : ERCC2 Protein, Excision Repair Cross-Complementing Rodent Repair Deficiency, Group 2 Protein, Xeroderma Pigmentosum Complementation Group D Protein, Excision Repair Cross Complementing Rodent Repair Deficiency, Group 2 Protein