Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q356410> ?p ?o }
Showing triples 1 to 31 of
31
with 100 triples per page.
- Q356410 subject Q6853345.
- Q356410 subject Q6853484.
- Q356410 subject Q7022992.
- Q356410 abstract "Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome.".
- Q356410 omim "136000".
- Q356410 wikiPageWikiLink Q104053.
- Q356410 wikiPageWikiLink Q1154619.
- Q356410 wikiPageWikiLink Q1181286.
- Q356410 wikiPageWikiLink Q13048280.
- Q356410 wikiPageWikiLink Q138864.
- Q356410 wikiPageWikiLink Q1415380.
- Q356410 wikiPageWikiLink Q178022.
- Q356410 wikiPageWikiLink Q18042596.
- Q356410 wikiPageWikiLink Q200779.
- Q356410 wikiPageWikiLink Q37748.
- Q356410 wikiPageWikiLink Q39.
- Q356410 wikiPageWikiLink Q42918.
- Q356410 wikiPageWikiLink Q6531938.
- Q356410 wikiPageWikiLink Q6853345.
- Q356410 wikiPageWikiLink Q6853484.
- Q356410 wikiPageWikiLink Q7022992.
- Q356410 wikiPageWikiLink Q8054.
- Q356410 wikiPageWikiLink Q9531.
- Q356410 name "Adermatoglyphia".
- Q356410 omim "136000".
- Q356410 type Disease.
- Q356410 type Thing.
- Q356410 type Q12136.
- Q356410 comment "Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected.".
- Q356410 label "Adermatoglyphia".
- Q356410 name "Adermatoglyphia".