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12114484
Source:
http://linkedlifedata.com/resource/pubmed/id/12114484
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017337
,
umls-concept:C0026882
,
umls-concept:C0030705
,
umls-concept:C0086409
,
umls-concept:C0205314
,
umls-concept:C0332183
,
umls-concept:C0332285
,
umls-concept:C0679058
,
umls-concept:C0679622
,
umls-concept:C0765879
,
umls-concept:C1384666
,
umls-concept:C1418195
,
umls-concept:C1547699
,
umls-concept:C2700640
pubmed:issue
7
pubmed:dateCreated
2002-7-12
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Genetic Markers
,
http://linkedlifedata.com/resource/pubmed/chemical/Glutamine
,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/OTOF protein, human
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1468-6244
pubmed:author
pubmed-author:Del CastilloII
,
pubmed-author:MenéndezII
,
pubmed-author:MigliosiVV
,
pubmed-author:Modamio-HøybjørSS
,
pubmed-author:Moreno-PelayoM AMA
,
pubmed-author:MorenoFF
,
pubmed-author:Rodríguez-BallesterosMM
,
pubmed-author:TelleríaDD
,
pubmed-author:VillamarMM
pubmed:issnType
Electronic
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
502-6
pubmed:dateRevised
2008-11-20
pubmed:meshHeading
pubmed-meshheading:12114484-Amino Acid Sequence
,
pubmed-meshheading:12114484-Amino Acid Substitution
,
pubmed-meshheading:12114484-Female
,
pubmed-meshheading:12114484-Gene Frequency
,
pubmed-meshheading:12114484-Genetic Markers
,
pubmed-meshheading:12114484-Glutamine
,
pubmed-meshheading:12114484-Hearing Loss, Sensorineural
,
pubmed-meshheading:12114484-Humans
,
pubmed-meshheading:12114484-Male
,
pubmed-meshheading:12114484-Membrane Proteins
,
pubmed-meshheading:12114484-Molecular Sequence Data
,
pubmed-meshheading:12114484-Mutation
,
pubmed-meshheading:12114484-Nuclear Family
,
pubmed-meshheading:12114484-Pedigree
,
pubmed-meshheading:12114484-Spain
,
pubmed-meshheading:12114484-Syndrome
pubmed:year
2002
pubmed:articleTitle
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
pubmed:affiliation
Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar km 9, 28034 Madrid, Spain.
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't