| http://purl.uniprot.org/citations/24684806 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24684806 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundHereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare tumor predisposition syndrome characterized by cutaneous and uterine leiomyomas and papillary type 2 renal cell cancer. Germline mutation of the fumarate hydratase (FH) gene is known to be associated with HLRCC.Case presentationWe describe a 64-year-old father and his 39-year-old son with HLRCC who developed papillary type 2 RCCs lacking cutaneous leiomyomas at any site. A common missense mutation in the FH gene, (c.1021G > A, p.D341N) in exon 7, was detected in the 2 cases. Functional prediction with the bioinformatics programs, SIFT and Polyphen-2, reported "damaging (SIFT score 0.00)" and "probably damaging (PSIC score 1.621)" values, respectively. In 162 healthy individuals, there were no cases of a G transition to any base. Finally, (c.1021G > A) in exon 7, was identified as a point mutation.ConclusionWe report a family with HLRCC in which a novel missense mutation was detected. A familial papillary type 2 renal cancer should be considered HLRCC unless typical cutaneous leiomyomas do not occur."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.org/dc/terms/identifier | "doi:10.1186/1756-0500-7-203"xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Lou Y."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Tamura K."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Shuin T."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Fujimoto K."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Kuwada M."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Chihara Y."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Kuniyasu H."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Torimoto K."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Kagebayashi Y."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/author | "Samma S."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/name | "BMC Res Notes"xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/pages | "203"xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/title | "Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas."xsd:string |
| http://purl.uniprot.org/citations/24684806 | http://purl.uniprot.org/core/volume | "7"xsd:string |
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| http://purl.uniprot.org/uniprot/#_A0A0S2Z3X6-mappedCitation-24684806 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24684806 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z4C3-mappedCitation-24684806 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24684806 |