| http://purl.uniprot.org/citations/26681308 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26681308 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26681308 | http://www.w3.org/2000/01/rdf-schema#comment | "Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. A total of 17 FA disease genes have been reported, all of which act in a recessive mode of inheritance. Here we report on a de novo g.41022153G>A; p.Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient. This heterozygous mutation causes a novel FA subtype, 'FA-R', which appears to be the first subtype of FA caused by a dominant-negative mutation. The patient, who features microcephaly and mental retardation, has reached adulthood without the typical bone marrow failure and paediatric cancers. Together with the recent reports on RAD51-associated congenital mirror movement disorders, our results point to an important role for RAD51-mediated homologous recombination in neurodevelopment, in addition to DNA repair and cancer susceptibility."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms9829"xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms9829"xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Hood L."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Hood L."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Li H."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Li H."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Balk J."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Balk J."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Glusman G."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Glusman G."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Williams G.J."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Williams G.J."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Balling R."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Balling R."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "May P."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "May P."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Wyman C."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Wyman C."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Bleijerveld O.B."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Bleijerveld O.B."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Dietrich R."xsd:string |
| http://purl.uniprot.org/citations/26681308 | http://purl.uniprot.org/core/author | "Dietrich R."xsd:string |