| pubmed-article:11590543 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C0033684 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C0014894 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C0023764 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C0268238 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C1427541 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C0679058 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C1547699 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
| pubmed-article:11590543 | lifeskim:mentions | umls-concept:C1711207 | lld:lifeskim |
| pubmed-article:11590543 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:11590543 | pubmed:dateCreated | 2001-10-8 | lld:pubmed |
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| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:11590543 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11590543 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11590543 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:11590543 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11590543 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11590543 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:11590543 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:FischerJJ | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:VerretJ LJL | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:WeissenbachJJ | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:Prud'hommeJ... | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:LathropMM | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:BouadjarBB | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:LefèvreCC | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:WollenbergAA | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:CaveJJ | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:HeiligRR | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:LakhdarHH | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:KaradumanAA | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:OzgücMM | lld:pubmed |
| pubmed-article:11590543 | pubmed:author | pubmed-author:JobardFF | lld:pubmed |
| pubmed-article:11590543 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11590543 | pubmed:volume | 69 | lld:pubmed |
| pubmed-article:11590543 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11590543 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11590543 | pubmed:pagination | 1002-12 | lld:pubmed |
| pubmed-article:11590543 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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