| http://purl.uniprot.org/citations/12632327 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12632327 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12632327 | http://www.w3.org/2000/01/rdf-schema#comment | "Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genomewide homozygosity mapping in two consanguineous families linked the locus to 2q35-q36 with a maximum two-point LOD score of 8.02 at marker D2S2248. Two recombination events defined the minimal critical region between markers D2S2248 and D2S2151 (3.74 cM). Using a candidate-gene approach, we identified two missense mutations in the amino-terminal signaling domain of the gene encoding Indian hedgehog (IHH). Both affected individuals of family 1 are homozygous for a 137C-->T transition (P46L), and the three patients in family 2 are homozygous for a 569T-->C transition (V190A). The two mutant amino acids are strongly conserved and predicted to be located outside the region where brachydactyly type A-1 mutations are clustered."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.org/dc/terms/identifier | "doi:10.1086/374318"xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.org/dc/terms/identifier | "doi:10.1086/374318"xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "De Paepe A."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "De Paepe A."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Mortier G.R."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Mortier G.R."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Kramer P."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Kramer P."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Giedion A."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Giedion A."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Coucke P.J."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Coucke P.J."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Hellemans J."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Hellemans J."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Beemer F."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/author | "Beemer F."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/pages | "1040-1046"xsd:string |
| http://purl.uniprot.org/citations/12632327 | http://purl.uniprot.org/core/pages | "1040-1046"xsd:string |