About: A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family

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About: A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family (en) Nová mutace v genu pro porfobilinogen deaminázu vede ke zkrácenému proteinu a je příčinou akutní intermitentní porfyrie v rozsáhlé indické rodině (cs)
Title	A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family (en) Nová mutace v genu pro porfobilinogen deaminázu vede ke zkrácenému proteinu a je příčinou akutní intermitentní porfyrie v rozsáhlé indické rodině (cs)
skos:prefLabel	A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family (en) Nová mutace v genu pro porfobilinogen deaminázu vede ke zkrácenému proteinu a je příčinou akutní intermitentní porfyrie v rozsáhlé indické rodině (cs)
skos:notation	RIV/00216208:11110/07:00008536!RIV08-MSM-11110___
http://linked.open.../vavai/riv/strany	194;201
http://linked.open...avai/riv/aktivita	P S Z
http://linked.open...avai/riv/aktivity	P(1M0520), S, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2008
http://linked.open...aciTvurceVysledku	Ulbrichová, Dana Martásek, Pavel Zeman, Jiří
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	408010
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/07:00008536
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Mutation; within; Porphobilinogen; Deaminase; Leading; Truncated; Protein; Cause; Acute; Intermittent; Porphyria; Extended; Indian; Family (en)
http://linked.open.../riv/klicoveSlovo	Cause Acute Protein Deaminase Porphobilinogen within Indian Porphyria Family Mutation Extended Leading Intermittent Truncated
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[6521660D2B93]
http://linked.open...i/riv/nazevZdroje	Folia Biologica (Praha)
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Center for Applied Genomics
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	53
http://linked.open...iv/tvurceVysledku	Zeman, Jiří Martásek, Pavel Ulbrichová, Dana
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0015-5500
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family

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