ESTIMATING CAUSALITY OF THE NOVEL PRION PROTEIN GENE VARIANT T201S
ESTIMATING CAUSALITY OF THE NOVEL PRION PROTEIN GENE VARIANT T201S
About this item
Full title
Author / Creator
Publisher
London: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group LTD
More information
Scope and Contents
Contents
The estimation of pathogenicity and penetrance of novel gene variants presents significant challenges, particularly with Mendelian segregation analysis in the absence of a family history. Here, we illustrate the value of an integrated approach with the utilisation of available large-scale population data. A 76-year old woman with no family history...
Alternative Titles
Full title
ESTIMATING CAUSALITY OF THE NOVEL PRION PROTEIN GENE VARIANT T201S
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1846417437
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1846417437
Other Identifiers
ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp-2016-315106.220
