About: Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry

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About: Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	For a decade, ribosomal proteins (RP) have attracted much attention from hematologists since a mutation in the RPS19 gene was first discovered in a Diamond-Blackfan anemia (DBA) patient. DBA is a congenital red cell aplasia that is usually diagnosed during early infancy, and strikingly, in addition to defects in red cell maturation the disorder is associated with various physical anomalies in about 40% of patients (MIM# 105650) [1]. To date, heterozygous mutations in nine RP genes have been conclusively associated with DBA. For a decade, ribosomal proteins (RP) have attracted much attention from hematologists since a mutation in the RPS19 gene was first discovered in a Diamond-Blackfan anemia (DBA) patient. DBA is a congenital red cell aplasia that is usually diagnosed during early infancy, and strikingly, in addition to defects in red cell maturation the disorder is associated with various physical anomalies in about 40% of patients (MIM# 105650) [1]. To date, heterozygous mutations in nine RP genes have been conclusively associated with DBA. (en)
Title	Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry (en)
skos:prefLabel	Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry (en)
skos:notation	RIV/61989592:15110/11:33141719!RIV13-MSM-15110___
http://linked.open...avai/predkladatel	Lékařská fakulta
http://linked.open...avai/riv/aktivita	I V Z
http://linked.open...avai/riv/aktivity	I, V, Z(MZ0UHKT2005)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Ludíková, Barbora Pospíšilová, Dagmar
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	Univerzita Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	189090
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/11:33141719
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ribosomal protein; Diamond-Blackfan anemia (en)
http://linked.open.../riv/klicoveSlovo	Diamond-Blackfan anemia ribosomal protein
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[67F9D8728BB4]
http://linked.open...i/riv/nazevZdroje	BLOOD CELLS MOLECULES AND DISEASES
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	46
http://linked.open...iv/tvurceVysledku	Blatný, J. Ludíková, Barbora Pospíšilová, Dagmar Suková, M. Čmejla, R.
http://linked.open...n/vavai/riv/zamer	Význam molekulárně biologických vyšetření pro objasnění patogeneze a pro diagnostiku poruch krvetvorby a využití krvetvorné buňky v léčbě onemocnění krvetvorby a jiných tkání.
issn	1079-9796
number of pages	2 (xsd:int)
http://bibframe.org/vocab/doi	10.1016/j.bcmd.2011.02.003
http://localhost/t...ganizacniJednotka	15110
is http://linked.open...avai/riv/vysledek of	Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry

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