| http://purl.uniprot.org/citations/9828125 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9828125 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9828125 | http://www.w3.org/2000/01/rdf-schema#comment | "Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The nonsyndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. Loci for nonsyndromic cases have been suggested on 2p13, 4q31, 6p24, 17q21-q24, and 19q13.2. Recently, we identified a family in which cleft lip and palate segregated in two of three generations with a balanced chromosomal translocation t(2;19)(q11. 2;q13.3). We used a positional-cloning strategy to identify a novel gene disrupted by the translocation on chromosome 19. Eight rare (q < 0.01) and nine common (q > 0.01) variants of this gene were detected in the DNA of 74 unrelated cases of cleft lip and/or cleft palate; no variants associated significantly with clefting, suggesting that this gene is not a major contributor to abnormal craniofacial development. This gene, CLPTM1, was ubiquitously expressed on Northern blots containing RNA from adult tissues and in whole-mount in situ hybridization of day 10 to 12 mouse embryos. CLPTM1 encodes a transmembrane protein and has strong homology to two Caenorhabditis elegans genes, suggesting that CLPTM1 may belong to a new gene family."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1998.5577"xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1998.5577"xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Murray J.C."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Murray J.C."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Hecht J.T."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Hecht J.T."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Ashworth L.K."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Ashworth L.K."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Yoshiura K."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Yoshiura K."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Daack-Hirsch S."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Daack-Hirsch S."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Machida J."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Machida J."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Patil S.R."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/author | "Patil S.R."xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/pages | "231-240"xsd:string |
| http://purl.uniprot.org/citations/9828125 | http://purl.uniprot.org/core/pages | "231-240"xsd:string |