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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A4003%21RIV10-MSM-11110___
rdf:type
n13:Vysledek skos:Concept
dcterms:description
Mutations in the hydroxymethylbilane synthase (HMBS) gene are responsible for the inherited disorder of acute intermittent porphyria (AIP). AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP. Mutations in the hydroxymethylbilane synthase (HMBS) gene are responsible for the inherited disorder of acute intermittent porphyria (AIP). AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP.
dcterms:title
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria
skos:prefLabel
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria
skos:notation
RIV/00216208:11110/09:4003!RIV10-MSM-11110___
n3:aktivita
n8:Z n8:S n8:P
n3:aktivity
P(1M0520), S, Z(MSM0021620806)
n3:cisloPeriodika
2
n3:dodaniDat
n11:2010
n3:domaciTvurceVysledku
n16:4688678 n16:4554604
n3:druhVysledku
n19:J
n3:duvernostUdaju
n5:S
n3:entitaPredkladatele
n6:predkladatel
n3:idSjednocenehoVysledku
308395
n3:idVysledku
RIV/00216208:11110/09:4003
n3:jazykVysledku
n15:eng
n3:klicovaSlova
Acute intermittent porphyria; HMBS Mutation; In vitro expression; Structure-function correlation; porphobilinogen deaminase gene; hydroxymethylbilane synthase gene; de-novo mutation; missense mutations; polymorphisms; population; expression; attacks
n3:klicoveSlovo
n4:polymorphisms n4:missense%20mutations n4:hydroxymethylbilane%20synthase%20gene n4:attacks n4:de-novo%20mutation n4:In%20vitro%20expression n4:porphobilinogen%20deaminase%20gene n4:Structure-function%20correlation n4:Acute%20intermittent%20porphyria n4:expression n4:population n4:HMBS%20Mutation
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[88A7409DC14B]
n3:nazevZdroje
Blood Cells Molecules & Diseases
n3:obor
n9:CE
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
7
n3:projekt
n17:1M0520
n3:rokUplatneniVysledku
n11:2009
n3:svazekPeriodika
42
n3:tvurceVysledku
Mamet, R. Martásek, Pavel Schneider-Yin, X. Minder, EI Schoenfeld, N. Ulbrichová, Dana Saudek, V.
n3:wos
000263504300015
n3:zamer
n18:MSM0021620806
s:issn
1079-9796
s:numberOfPages
7
n12:organizacniJednotka
11110