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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2008
Gaiak:
Article
Sarrera elektronikoa: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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