http://purl.uniprot.org/citations/7690622 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/7690622 | http://www.w3.org/2000/01/rdf-schema#comment | "Fanconi anemia is a rare, autosomal recessive disorder characterized at the cellular level by a combination of hypersensitivity to DNA-damaging agents and chromosomal instability. Clinical features include pancytopenia, often associated with specific congenital malformations, and a predisposition to leukemia. We previously cloned the gene defective in Fanconi anemia group C by complementation of the intrinsic sensitivity of Fanconi anemia cells to DNA cross-linking agents, and we recently cloned its mouse homolog (Facc). In this report, we localized Facc to mouse Chromosome (Chr) 13 and its rat homolog to rat Chr 17. A previously described anemic mouse mutant, flexed-tail, maps to the same chromosomal region. Differences were detected between DNA of the flexed-tail and congenic mice, indicating the proximity of the Facc probe to the disease mutation. Analysis of flexed-tail RNA did not reveal detectable difference in Facc message level or size between flexed-tail and congenic mice. On this basis, we conclude that, although flexed-tail remains a candidate for Fanconi anemia in the mouse, there is no evidence currently that Facc is mutated in flexed-tail mice."xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00296818"xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/author | "Buchwald M."xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/author | "Szpirer C."xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/author | "Barker J.E."xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/author | "Nadeau J.H."xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/author | "Wevrick R."xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/name | "Mamm Genome"xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/pages | "440-444"xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/title | "Mapping of the murine and rat Facc genes and assessment of flexed-tail as a candidate mouse homolog of Fanconi anemia group C."xsd:string |
http://purl.uniprot.org/citations/7690622 | http://purl.uniprot.org/core/volume | "4"xsd:string |
http://purl.uniprot.org/citations/7690622 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7690622 |
http://purl.uniprot.org/citations/7690622 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/7690622 |
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