Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

BACKGROUND: Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks. CASE PRESENTATION: A fifty-one-year old female patient...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Popp, Isabell, Punekar, Maqsood, Telford, Nick, Stivaros, Stavros, Chandler, Kate, Minnis, Meenakshi, Castleton, Anna, Higham, Claire, Hopewell, Louise, Gareth Evans, D., Raams, Anja, Theil, Arjan F., Meyer, Stefan, Schindler, Detlev
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5765604/
https://ncbi.nlm.nih.gov/pubmed/29325523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0520-1
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