Linked Life Data

10526198

Source:http://linkedlifedata.com/resource/pubmed/id/10526198

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1999-12-16
pubmed:abstractText
A point mutation at codon 210 of the prion protein gene (PRNP), resulting in the substitution of isoleucine for valine (V210I) has been found in a 54-year-old Moroccan patient affected with Creutzfeldt-Jakob disease (CJD). This patient is the first carrier of the PRNP V210I mutation reported from North Africa. The clinical presentation of the patient was rather similar to that seen in classical CJD, except that unusual early sensory symptoms were observed. The mother of the proband, aged 72, is a further example of an asymptomatic elderly carrier of the PRNP V210I mutation, suggesting an incomplete penetrance of the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
168
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
141-4
pubmed:dateRevised
2006-11-28
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.
pubmed:affiliation
Centre de Recherche C. Bernard, IFR 6, Service de Biochimie (Pr. J. -M. Launay), Hôpital Lariboisière, 2 rue A. Paré, 75475, Paris, France.
pubmed:publicationType
Journal Article, Case Reports