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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F00%3A00002221%21RIV%2F2001%2FGA0%2F111101%2FN
rdf:type
n4:Vysledek skos:Concept
dcterms:description
Gene, mutation, expression, adenylosuccinate lyase.Fundamental complex study bringing knowledge of the whole gene structure, of its cDNA isoforms and molecular analysis of a representative series of patients with this enzyme deficiency.Biochemical aspects of the enzymopathy are showed worth further investigation which might help in elucidating nature of the particular neuronopathic phenotype. Gene, mutation, expression, adenylosuccinate lyase.Fundamental complex study bringing knowledge of the whole gene structure, of its cDNA isoforms and molecular analysis of a representative series of patients with this enzyme deficiency.Biochemical aspects of the enzymopathy are showed worth further investigation which might help in elucidating nature of the particular neuronopathic phenotype.
dcterms:title
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
skos:prefLabel
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
skos:notation
RIV/00216208:11110/00:00002221!RIV/2001/GA0/111101/N
n5:strany
1501
n5:aktivita
n12:P
n5:aktivity
P(GA301/00/0689), P(IZ3608)
n5:cisloPeriodika
10
n5:dodaniDat
n15:2001
n5:domaciTvurceVysledku
Kmoch, Stanislav Šebesta, Ivan Stibůrková, Blanka Krijt, Jakub Zikánová, Marie
n5:druhVysledku
n7:J
n5:duvernostUdaju
n14:S
n5:entitaPredkladatele
n16:predkladatel
n5:idSjednocenehoVysledku
712851
n5:idVysledku
RIV/00216208:11110/00:00002221
n5:jazykVysledku
n8:eng
n5:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n5:kontrolniKodProRIV
[E2281521F798]
n5:nazevZdroje
Human Molecular Genetics
n5:obor
n10:FB
n5:pocetDomacichTvurcuVysledku
5
n5:pocetTvurcuVysledku
6
n5:projekt
n6:IZ3608 n6:GA301%2F00%2F0689
n5:rokUplatneniVysledku
n15:2000
n5:svazekPeriodika
9
n5:tvurceVysledku
Krijt, Jakub Šebesta, Ivan Zikánová, Marie Kmoch, Stanislav Hartmannová, H. Stibůrková, Blanka
s:issn
0964-6906
s:numberOfPages
13
n13:organizacniJednotka
11110