Matches in DBpedia 2014 for { <http://dbpedia.org/resource/CLN5> ?p ?o. }
Showing items 1 to 23 of
23
with 100 items per page.
- CLN5 abstract "Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky-Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM]".
- CLN5 entrezgene "1203".
- CLN5 wikiPageExternalLink br.fcgi?book=gene&part=ncl.
- CLN5 wikiPageID "14876666".
- CLN5 wikiPageRevisionID "593796884".
- CLN5 hasPhotoCollection CLN5.
- CLN5 requireManualInspection "no".
- CLN5 summaryText "The neuronal ceroid lipofuscinoses are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type , the late infantile type , and the juvenile type based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis .[supplied by OMIM]".
- CLN5 updateCitations "yes".
- CLN5 updatePage "yes".
- CLN5 updateProteinBox "yes".
- CLN5 updateSummary "yes".
- CLN5 type Biomolecule.
- CLN5 type Protein.
- CLN5 type BiologicalObject.
- CLN5 comment "Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types.".
- CLN5 label "CLN5".
- CLN5 sameAs m.03g_y5s.
- CLN5 sameAs Q5012776.
- CLN5 sameAs Q5012776.
- CLN5 sameAs CLN5.
- CLN5 wasDerivedFrom CLN5?oldid=593796884.
- CLN5 isPrimaryTopicOf CLN5.