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rdf:type
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Description
| - Paper describes seven genetically inherited mutations of the metabolic protein cystathionine gamma-lyase (h-CTH) found in human and discusses the related clinical symptoms. Levels of metabolites measured in plasma of several hundreds of people with and without mutations are compared. Mutation analysis of 3D molecular structure explains trends of observed effects on metabolites levels and elucidate why vitamin B6 administration improves metabolite levels for some mutations and not for other ones.
- Paper describes seven genetically inherited mutations of the metabolic protein cystathionine gamma-lyase (h-CTH) found in human and discusses the related clinical symptoms. Levels of metabolites measured in plasma of several hundreds of people with and without mutations are compared. Mutation analysis of 3D molecular structure explains trends of observed effects on metabolites levels and elucidate why vitamin B6 administration improves metabolite levels for some mutations and not for other ones. (en)
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Title
| - Cystathionine .gamma.-lyase: Clinical, metabolic, genetic, and structural studies
- Cystathionine .gamma.-lyase: Clinical, metabolic, genetic, and structural studies (en)
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skos:prefLabel
| - Cystathionine .gamma.-lyase: Clinical, metabolic, genetic, and structural studies
- Cystathionine .gamma.-lyase: Clinical, metabolic, genetic, and structural studies (en)
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skos:notation
| - RIV/61389013:_____/09:00370427!RIV12-AV0-61389013
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(GA305/07/1073), P(IAA500500701), Z(AV0Z40500505), Z(MSM0021620806)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/61389013:_____/09:00370427
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - cystathionine gamma-lyase; cystathioninuria; hypercystathioninemia (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Molecular Genetics and Metabolism
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Hašek, Jindřich
- Wang, J.
- Janošíková, B.
- Kožich, V.
- Allen, R. H.
- Chien, Y. H.
- Collard, R.
- Finn, C. T.
- Hegele, R. A.
- Hwu, W. L.
- Jakobs, C.
- Kraus, J. P.
- Mudd, S. H.
- Stabler, S. P.
- Venezia, S.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://bibframe.org/vocab/doi
| - 10.1016/j.ymgme.2009.04.001
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