About: A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

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About: A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	storage disorder, prosaposin, PSAP storage disorder, prosaposin, PSAP (en)
Title	A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation (en)
skos:prefLabel	A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation (en)
skos:notation	RIV/00216208:11110/01:00110530!RIV/2002/MSM/111102/N
http://linked.open.../vavai/riv/strany	927;940
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(VS96127)
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2002
http://linked.open...aciTvurceVysledku	Elleder, Milan Hůlková, Helena Hřebíček, Martin Ledvinová, Jana Asfaw, Befekadu
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 Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	672248
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/01:00110530
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Novel;mutation;coding;region;prosaposin;leads;complete;deficiency;prosaposin;saposins;associated;complex;sphingolipidosis;dominated;lactosylceramide;accumulation (en)
http://linked.open.../riv/klicoveSlovo	deficiency coding associated accumulation region complex mutation leads complete lactosylceramide saposins sphingolipidosis dominated Novel prosaposin
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[2EF6CF7E7B32]
http://linked.open...i/riv/nazevZdroje	Human Molecular Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...vavai/riv/projekt	Center of molecular medicine
http://linked.open...UplatneniVysledku	2001
http://linked.open...v/svazekPeriodika	10
http://linked.open...iv/tvurceVysledku	Elleder, Milan Hůlková, Helena Hřebíček, Martin Ledvinová, Jana Asfaw, Befekadu
issn	0964-6906
number of pages	14 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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