Article
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA repair - 1 Jan 2009
Khan Sikandar G, Oh Kyu-Seon, Emmert Steffen, Imoto Kyoko, Tamura Deborah, Digiovanna John J, Shahlavi Tala, Armstrong Najealicka, Baker Carl C, Neuburg Marcy, Zalewski Chris, Brewer Carmen, Wiggs Edythe, Schiffmann Raphael, Kraemer Kenneth H
Abstract excerpt
Two unrelated xeroderma pigmentosum (XP) patients, with and without neurological abnormalities, respectively, had identical defects in the XPC DNA nucleotide excision repair (NER) gene. Patient XP21BE, a 27-year-old woman, had developmental delay and early onset of sensorineural hearing loss. In contrast, patient XP329BE, a 13-year-old boy, had a normal neurological examination. Both patients had marked...
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