| http://purl.uniprot.org/citations/10480374 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10480374 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10480374 | http://www.w3.org/2000/01/rdf-schema#comment | "Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report linkage of a three-generation family of Pakistani origin with autosomal dominant cataract "zonular nuclear" pulverulent type (CZNP) on chromosome 1q21.1. Genome wide-linkage analysis excluded all the known cataract loci except on chromosome 1q. Significantly positive 2-point lod score values (Z=3.01 at theta=0) were obtained for markers D1S305 and D1S2721, which are known to flank the gene for connexin 50 (Cx50) or gap junction protein alpha-8 (Gja8). Previously a mutation in this gene has been reported in a British family with zonular pulverulent cataract (CZP). Here we describe a second mutation (E48K) in connexin 50 that confirms the involvement of this gene in cataractogenesis."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004399900094"xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004399900094"xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Hameed A."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Hameed A."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Moore T."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Moore T."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Bhattacharya S.S."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Bhattacharya S.S."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Khaliq S."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Khaliq S."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Francis P.J."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Francis P.J."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Mehdi S.Q."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Mehdi S.Q."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Berry V."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Berry V."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Shiels A."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Shiels A."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Ionides A."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Ionides A."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Anwar K."xsd:string |
| http://purl.uniprot.org/citations/10480374 | http://purl.uniprot.org/core/author | "Anwar K."xsd:string |