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http://purl.uniprot.org/citations/19018793http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/19018793http://www.w3.org/2000/01/rdf-schema#comment"

Background

Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1.

Methods

Three families with nine affected members were assessed using a candidate gene-based screening approach.

Results

In all three families, new heterozygous mutations were found in DSG1.

Conclusion

Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haploinsufficiency for DSG1."xsd:string
http://purl.uniprot.org/citations/19018793http://purl.org/dc/terms/identifier"doi:10.1111/j.1365-2230.2008.02733.x"xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/author"Sprecher E."xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/author"Bergman R."xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/author"Indelman M."xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/author"Lugassy J."xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/author"Hershkovitz D."xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/date"2009"xsd:gYear
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/name"Clin Exp Dermatol"xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/pages"224-228"xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/title"Novel mutations in DSG1 causing striate palmoplantar keratoderma."xsd:string
http://purl.uniprot.org/citations/19018793http://purl.uniprot.org/core/volume"34"xsd:string
http://purl.uniprot.org/citations/19018793http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/19018793
http://purl.uniprot.org/citations/19018793http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/19018793
http://purl.uniprot.org/uniprot/#_Q02413-mappedCitation-19018793http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/19018793
http://purl.uniprot.org/uniprot/#_Q712V6-mappedCitation-19018793http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/19018793
http://purl.uniprot.org/uniprot/Q02413http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/19018793
http://purl.uniprot.org/uniprot/Q712V6http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/19018793