| http://purl.uniprot.org/citations/11590543 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11590543 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11590543 | http://www.w3.org/2000/01/rdf-schema#comment | "Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We previously localized a gene for a subset of NCIE to chromosome 3 (designated "the NCIE2 locus"), in six families. Lipid droplets were found in five of these six families, suggesting a diagnosis of CDS. Four additional families selected on the basis of a confirmed diagnosis of CDS also showed linkage to the NCIE2 locus. Linkage-disequilibrium analysis of these families, all from the Mediterranean basin, allowed us to refine the NCIE2 locus to an approximately 1.3-Mb region. Candidate genes from the interval were screened, and eight distinct mutations in the recently identified CGI-58 gene were found in 13 patients from these nine families. The spectrum of gene variants included insertion, deletion, splice-site, and point mutations. The CGI-58 protein belongs to a large family of proteins characterized by an alpha/beta hydrolase fold. CGI-58 contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. Interestingly, CGI-58 differs from other members of the esterase/lipase/thioesterase subfamily in that its putative catalytic triad contains an asparagine in place of the usual serine residue."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.org/dc/terms/identifier | "doi:10.1086/324121"xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.org/dc/terms/identifier | "doi:10.1086/324121"xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Heilig R."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Heilig R."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Weissenbach J."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Weissenbach J."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Fischer J."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Fischer J."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Lathrop M."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Lathrop M."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Bouadjar B."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Bouadjar B."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Jobard F."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Jobard F."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Lakhdar H."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Lakhdar H."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Lefevre C."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Lefevre C."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Caux F."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Caux F."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Karaduman A."xsd:string |
| http://purl.uniprot.org/citations/11590543 | http://purl.uniprot.org/core/author | "Karaduman A."xsd:string |