About: Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We present here the results of genetic analysis of patients with WAS from eleven Eastern and Central European (ECE) countries and Turkey. Clinical and haematological information of 87 affected males and 48 carrier females from 77 WAS families were collected. The WASP gene was sequenced from genomic DNA of patients with WAS, as well as their familiy members to identify carriers. In this large cohort, we identified 62 unique mutations including 17 novel sequence variants. The mutations were scattered throughout the WASP gene and included single base pair changes (17 missense and 11 nonsense mutations), 7 small insertions, 18 deletions, and 9 splice site defects. Genetic counselling and prenatal diagnosis were applied in four affected families. This study was part of the J Project aimed at identifying genetics basis of primary immunodeficiency disease in ECE countries. This report provides the first comprehensive overview of the molecular genetic and demographic features of WAS in ECE. We present here the results of genetic analysis of patients with WAS from eleven Eastern and Central European (ECE) countries and Turkey. Clinical and haematological information of 87 affected males and 48 carrier females from 77 WAS families were collected. The WASP gene was sequenced from genomic DNA of patients with WAS, as well as their familiy members to identify carriers. In this large cohort, we identified 62 unique mutations including 17 novel sequence variants. The mutations were scattered throughout the WASP gene and included single base pair changes (17 missense and 11 nonsense mutations), 7 small insertions, 18 deletions, and 9 splice site defects. Genetic counselling and prenatal diagnosis were applied in four affected families. This study was part of the J Project aimed at identifying genetics basis of primary immunodeficiency disease in ECE countries. This report provides the first comprehensive overview of the molecular genetic and demographic features of WAS in ECE. (en)
Title	Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome (en)
skos:prefLabel	Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome (en)
skos:notation	RIV/00216224:14110/11:00052204!RIV12-MSM-14110___
http://linked.open...avai/riv/aktivita	S V
http://linked.open...avai/riv/aktivity	S, V
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Freiberger, Tomáš
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	200984
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/11:00052204
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Wiskott-Aldrich syndrome; WASP mutation (en)
http://linked.open.../riv/klicoveSlovo	WASP mutation Wiskott-Aldrich syndrome
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[424E2039CEBB]
http://linked.open...i/riv/nazevZdroje	Molecular Immunology
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	19 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	48
http://linked.open...iv/tvurceVysledku	Freiberger, Tomáš Avcin, T. Bernatowska, E. Chernyshova, L. Erdos, M. Gulaszy, V. Iagaru, N. Kondratenko, Ivan Kostyuchenko, L. Kutukculer, N. Marodi, L. Mazza, C. Pac, M. Pasic, S. Prokofjeva, T. Rascon, Jelena Shcherbina, A. Toth, B. van der Burg, M.
http://linked.open...ain/vavai/riv/wos	000287894600008
issn	0161-5890
number of pages	5 (xsd:int)
http://bibframe.org/vocab/doi	10.1016/j.molimm.2010.11.013
http://localhost/t...ganizacniJednotka	14110

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