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

2.50
Hdl Handle:
http://hdl.handle.net/10541/620823
Title:
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
Authors:
Popp, I; Punekar, M; Telford, Nicholas; Stivaros, S; Chandler, K; Minnis, M; Castleton, Anna; Higham, Claire E ( 0000-0002-0917-9743 ) ; Hopewell, L; Evans, D; Raams, A; Theil, A; Meyer, Stefan; Schindler, D
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.
Affiliation:
Department of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germany
Citation:
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 2018, 19 (1):7 BMC Med Genet
Journal:
BMC Medical Genetics
Issue Date:
11-Jan-2018
URI:
http://hdl.handle.net/10541/620823
DOI:
10.1186/s12881-018-0520-1
PubMed ID:
29325523
Type:
Article
Language:
en
ISSN:
1471-2350
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorPopp, Ien
dc.contributor.authorPunekar, Men
dc.contributor.authorTelford, Nicholasen
dc.contributor.authorStivaros, Sen
dc.contributor.authorChandler, Ken
dc.contributor.authorMinnis, Men
dc.contributor.authorCastleton, Annaen
dc.contributor.authorHigham, Claire Een
dc.contributor.authorHopewell, Len
dc.contributor.authorEvans, Den
dc.contributor.authorRaams, Aen
dc.contributor.authorTheil, Aen
dc.contributor.authorMeyer, Stefanen
dc.contributor.authorSchindler, Den
dc.date.accessioned2018-02-12T16:43:43Z-
dc.date.available2018-02-12T16:43:43Z-
dc.date.issued2018-01-11-
dc.identifier.citationFanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 2018, 19 (1):7 BMC Med Geneten
dc.identifier.issn1471-2350-
dc.identifier.pmid29325523-
dc.identifier.doi10.1186/s12881-018-0520-1-
dc.identifier.urihttp://hdl.handle.net/10541/620823-
dc.description.abstractFanconi 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.en
dc.language.isoenen
dc.rightsArchived with thanks to BMC medical geneticsen
dc.titleFanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.en
dc.typeArticleen
dc.contributor.departmentDepartment of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germanyen
dc.identifier.journalBMC Medical Geneticsen

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