Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
dc.contributor.author | Popp, I | |
dc.contributor.author | Punekar, M | |
dc.contributor.author | Telford, Nicholas | |
dc.contributor.author | Stivaros, S | |
dc.contributor.author | Chandler, K | |
dc.contributor.author | Minnis, M | |
dc.contributor.author | Castleton, Anna | |
dc.contributor.author | Higham, Claire E | |
dc.contributor.author | Hopewell, L | |
dc.contributor.author | Evans, D | |
dc.contributor.author | Raams, A | |
dc.contributor.author | Theil, A | |
dc.contributor.author | Meyer, Stefan | |
dc.contributor.author | Schindler, D | |
dc.date.accessioned | 2018-02-12T16:43:43Z | |
dc.date.available | 2018-02-12T16:43:43Z | |
dc.date.issued | 2018-01-11 | |
dc.identifier.citation | Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 2018, 19 (1):7 BMC Med Genet | en |
dc.identifier.issn | 1471-2350 | |
dc.identifier.pmid | 29325523 | |
dc.identifier.doi | 10.1186/s12881-018-0520-1 | |
dc.identifier.uri | http://hdl.handle.net/10541/620823 | |
dc.description.abstract | 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. | |
dc.language.iso | en | en |
dc.rights | Archived with thanks to BMC medical genetics | en |
dc.title | Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. | en |
dc.type | Article | en |
dc.contributor.department | Department of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germany | en |
dc.identifier.journal | BMC Medical Genetics | en |
html.description.abstract | 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. |