| http://purl.uniprot.org/citations/22949144 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22949144 | http://www.w3.org/2000/01/rdf-schema#comment | "The occurrence of epilepsy with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to mutations in the PCDH19 gene, located on chromosome X and encoding for protocadherin 19. EFMR shows a rare X-linked inheritance wherein affected females may be segregating a mutation through unaffected transmitting males (Fabisiak and Erickson Clin Genet 38(5):353-358, 1990; Juberg and Hellman J Pediatr 79:726-732, 1971; Ryan et al. Nat Genet 17(1):92-95, 1997). The description of a pedigree segregating PCDH19 mutations from unaffected mothers to patients (Depienne et al. Hum Mutat 32:E1959-1975, 2011; Dibbens et al. Neurology 76:1514-1519, 2011) complicates disease inheritance and genetic counseling. In the present study, we describe a PCDH19 mutation segregating from an asymptomatic mother to an EFMR patient. In order to correlate the healthy phenotype with the genotype of the transmitting mother, we quantified in a few tissues the level of the mutant allele by real-time PCR, disclosing a somatic mosaicism. This finding has a great impact on genetic counseling."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10048-012-0342-9"xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/author | "Specchio N."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/author | "Terracciano A."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/author | "Vigevano F."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/author | "Darra F."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/author | "Sferra A."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/author | "Bernardina B.D."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/name | "Neurogenetics"xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/pages | "341-345"xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/title | "Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR."xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://purl.uniprot.org/core/volume | "13"xsd:string |
| http://purl.uniprot.org/citations/22949144 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22949144 |
| http://purl.uniprot.org/citations/22949144 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22949144 |
| http://purl.uniprot.org/uniprot/#_B3KU71-mappedCitation-22949144 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22949144 |
| http://purl.uniprot.org/uniprot/#_Q8TAB3-mappedCitation-22949144 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22949144 |
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| http://purl.uniprot.org/uniprot/B3KU71 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/22949144 |