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...

詳細記述

保存先:
書誌詳細
出版年:BMC Med Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2018
主題:
Case Report
オンライン･アクセス: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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