Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10553/49390
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Fernández-Burriel, M. | en_US |
| dc.contributor.author | Peña Quintana, Luis | en_US |
| dc.contributor.author | Ramos, J. C. | en_US |
| dc.contributor.author | Cabrera, J. C. | en_US |
| dc.contributor.author | Marti, M. | en_US |
| dc.contributor.author | Rodríguez-Quiñones, F. | en_US |
| dc.contributor.author | Chabás, A. | en_US |
| dc.date.accessioned | 2018-11-24T06:58:32Z | - |
| dc.date.available | 2018-11-24T06:58:32Z | - |
| dc.date.issued | 2003 | en_US |
| dc.identifier.issn | 0009-9163 | en_US |
| dc.identifier.uri | http://hdl.handle.net/10553/49390 | - |
| dc.language | eng | en_US |
| dc.relation.ispartof | Clinical genetics | en_US |
| dc.source | Clinical Genetics[ISSN 0009-9163],v. 63, p. 235-236 | en_US |
| dc.subject | 32 Ciencias médicas | en_US |
| dc.subject | 320102 Genética clínica | en_US |
| dc.subject.other | Sphingomyelinase gene | en_US |
| dc.subject.other | Niemann-Pick disease | en_US |
| dc.subject.other | R608del | en_US |
| dc.title | The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B [2] | en_US |
| dc.type | info:eu-repo/semantics/annotation | en_US |
| dc.type | Annotation | en_US |
| dc.identifier.doi | 10.1034/j.1399-0004.2003.00025.x | en_US |
| dc.identifier.scopus | 0042632727 | - |
| dc.contributor.authorscopusid | 6602963657 | - |
| dc.contributor.authorscopusid | 6603266503 | - |
| dc.contributor.authorscopusid | 55605764759 | - |
| dc.contributor.authorscopusid | 7202882368 | - |
| dc.contributor.authorscopusid | 9436010100 | - |
| dc.contributor.authorscopusid | 6602308242 | - |
| dc.contributor.authorscopusid | 55399878000 | - |
| dc.description.lastpage | 236 | en_US |
| dc.description.firstpage | 235 | en_US |
| dc.relation.volume | 63 | en_US |
| dc.investigacion | Ciencias de la Salud | en_US |
| dc.type2 | Comentario | en_US |
| dc.description.numberofpages | 2 | en_US |
| dc.utils.revision | Sí | en_US |
| dc.identifier.ulpgc | Sí | en_US |
| dc.identifier.ulpgc | Sí | en_US |
| dc.identifier.ulpgc | Sí | en_US |
| dc.identifier.ulpgc | Sí | en_US |
| dc.contributor.buulpgc | BU-MED | en_US |
| dc.description.jcr | 2,025 | - |
| dc.description.jcrq | Q3 | - |
| dc.description.scie | SCIE | - |
| item.grantfulltext | none | - |
| item.fulltext | Sin texto completo | - |
| crisitem.author.dept | GIR IUIBS: Nutrición | - |
| crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
| crisitem.author.dept | Departamento de Ciencias Clínicas | - |
| crisitem.author.orcid | 0000-0001-6052-5894 | - |
| crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
| crisitem.author.fullName | Peña Quintana, Luis | - |
| Appears in Collections: | Comentario | |
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