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,...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2008
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items