Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities

We describe an unusual xeroderma pigmentosum (XP) patient with a mutation in XP complementation group G, representing only the third reported Japanese XP-G patient. A 40-year-old male (XP3HM), born from consanguineous parents experienced sun sensitivity and pigmentary changes of sun-exposed skin sin...

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Main Authors: Moriwaki, Shinichi, Takigawa, Masahiro, Igarashi, Naoya, Nagai, Yayoi, Amano, Hiroo, Ishikawa, Osamu, Khan, Sikandar G., Kraemer, Kenneth H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3305914/
https://ncbi.nlm.nih.gov/pubmed/22417308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1600-0625.2012.01446.x
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