XPC INITIATION CODON MUTATION IN XERODERMA PIGMENTOSUM PATIENTS WITH AND WITHOUT NEUROLOGICAL SYMPTOMS

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 y/o woman, had developmental delay and early onset of sensorineural hearing loss. In contrast,...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2684809/
https://ncbi.nlm.nih.gov/pubmed/18955168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dnarep.2008.09.007
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