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A novelPOLHgene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation

✍ Scribed by REKAYA, MARIEM BEN; MESSAOUD, OLFA; MEBAZAA, AMEL; RIAHI, OLFA; AZAIEZ, HELA; KEFI, RIM; ZGHAL, MOHAMED; BOUBAKER, SAMIR; AMOURI, AHLEM; OSMAN-DHAHRI, AMEL BEN; ABDELHAK, SONIA; MOKNI, MOURAD

Book ID
113094255
Publisher
Indian Academy of Sciences
Year
2011
Tongue
English
Weight
687 KB
Volume
90
Category
Article
ISSN
0022-1333

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Mutations in theXPD gene in xeroderma pi
Mutations in theXPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype-phenotype correlation
✍ Kobayashi, Takehiro ;Uchiyama, Makoto ;Fukuro, Shuhei ;Tanaka, Kiyoji 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB 👁 2 views

## Abstract Xeroderma pigmentosum (XP) is a sun‐sensitive and cancer‐prone genetic disorder consisting of seven genetically distinct complementation groups (groups A–G). XP group D (XP‐D) is a heterogeneous group. Mutations in the XPD gene (__XPD__) can exhibit three distinct clinical phenotypes: X