About: Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 01 January 1999

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1999 (uk) articolo scientifico (pubblicato il 1999) (it) im Januar 1999 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1999 (ast) artikull shkencor i botuar më 01 janar 1999 (sq) scientific article published on 01 January 1999 (en)
publication date	wds:Q73595776-943FDD9F-19FE-4475-90B7-ABED82D54CE3
publication date	1999-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q73595776-2D7AA911-E8BC-4302-BCE7-3572BFAA3D6B wds:Q73595776-450A9F40-F277-4D4F-8A97-602783DED14B wds:Q73595776-B6E36D51-B5E6-4FC4-AD1A-C487069FBB2B wds:Q73595776-C00A7FE6-663F-42DA-9058-7CAE0026CFC9
author name string	N W Wood S Povey M B Davis E M Valente
rdfs:label	Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (en) Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (nl) Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (sq)
skos:prefLabel	Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (en) Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (nl) Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (sq)
name	Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (en) Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (nl) Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (sq)
author	wds:Q73595776-1199C59F-5A50-4205-94BB-3499A7A7A45B
author	Thomas Warner
title	wds:Q73595776-0CF8AF9C-2734-4360-A5FC-C9B7B7216F08
title	Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations (en)
page(s)	wds:Q73595776-B0B0D99F-6C06-41A1-8F3A-DF04C3C2D840
page(s)	1-8
instance of	wds:Q73595776-279CC600-AC19-43CB-82CA-C931D4E8B756
instance of	scholarly article
PubMed ID	wds:Q73595776-D332D00C-C999-41D8-818D-9FF9916AEA3E
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10738516
PubMed ID	10738516
published in	wds:Q73595776-9C7BBE82-4485-4EA5-A68B-9B9C8F6B2674
published in	Annals of Human Genetics
issue	wds:Q73595776-7B8C4662-FD09-45DD-B2D7-F03D22334E1E
volume	wds:Q73595776-32364727-764E-4EED-89FF-F82588A28213
issue	Pt 1
volume	63
DOI	wds:Q73595776-113CC38B-98AE-46E3-B639-8E2FD8BA5B8D
DOI	http://dx.doi.org/10.1046/J.1469-1809.1999.6310001.X
DOI	10.1046/J.1469-1809.1999.6310001.X
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73595776
is cites work of	Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm Additional support for the association of SLITRK1 var321 and Tourette syndrome Unusual phenotypic expression of the DYT1 mutation Developments in the molecular biology of DYT1 dystonia Preimplantation genetic diagnosis for early-onset torsion dystonia. Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
is cites work of	wds:Q73467274-2F94095F-F4B3-46E7-A4DF-FEBCFC0F7679 wds:Q35796509-DF3220DA-532F-471A-8B55-736CF626EAC0 wds:Q48024971-EBEC9AB4-D615-4A4B-B31D-4B9EF4783320 wds:Q28363162-8C6A09E0-91DC-4C57-806B-98E8DD03CD47 wds:Q35554588-C5A91A4D-76C7-4647-8C33-2959B514058D wds:Q59526238-18AC1A89-AC75-436A-AAAE-6BF65637F5FF wds:Q77840758-38EE4ACA-2896-482A-BF33-EB716303E238 wds:Q58184574-18CED809-8D00-49BA-8223-C3996B077708

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 190 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software