| http://purl.uniprot.org/citations/8664898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8664898 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8664898 | http://www.w3.org/2000/01/rdf-schema#comment | "Craniofacial-deafness-hand syndrome (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers. In a family of three affected individuals with this syndrome, a mother and two children, a missense mutation (Asn47Lys) in the paired domain of PAX3 was initially detected by SSCP analysis. PCR amplification using an oligonucleotide with a terminal 3'-residue match for the C-to-G transversion in codon 47 showed the presence of this mutation in the DNA from all affected members. The DNA from unaffected members were refractory to PCR amplification with the mutation-specific oligonucleotide but did amplify a control primer pair in the same PCR reaction tube. A previously described missense mutation in this same codon (Asn47His) is associated with Waardenburg syndrome type 3 (Hoth et al., 1993). Substitution of a basic amino acid for asparagine at residue 47, conserved in all known murine Pax and human PAX genes, appears to have a more drastic effect on the phenotype than missense, frameshift and deletion mutations of PAX3 that cause Waardenburg syndrome type 1."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.0.co;2-t"xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.0.co;2-t"xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Sommer A."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Sommer A."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Friedman T.B."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Friedman T.B."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Morell R."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Morell R."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Asher J.H. Jr."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/author | "Asher J.H. Jr."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/pages | "30-35"xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/pages | "30-35"xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/title | "Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/title | "Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome."xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/8664898 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8664898 |
| http://purl.uniprot.org/citations/8664898 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8664898 |