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rdf:type
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rdfs:seeAlso
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Description
| - Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal serum uric acid concentrations, increased plasma hypoxanthine, and xanthine were found. HPRT activity in erythrocytes was surprisingly low: at 8.6 nmol h(-1) mg(-1) haemoglobin. Mutation analysis revealed a heterozygous HPRT gene mutation, c.215A>G (p.Tyr72Cys). Assessment of X-inactivation ratio has shown that >75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings.
- Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal serum uric acid concentrations, increased plasma hypoxanthine, and xanthine were found. HPRT activity in erythrocytes was surprisingly low: at 8.6 nmol h(-1) mg(-1) haemoglobin. Mutation analysis revealed a heterozygous HPRT gene mutation, c.215A>G (p.Tyr72Cys). Assessment of X-inactivation ratio has shown that >75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings. (en)
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Title
| - Unusual presentation of Kelley-Seegmiller syndrome
- Unusual presentation of Kelley-Seegmiller syndrome (en)
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skos:prefLabel
| - Unusual presentation of Kelley-Seegmiller syndrome
- Unusual presentation of Kelley-Seegmiller syndrome (en)
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skos:notation
| - RIV/00216208:11110/08:1920!RIV12-MZ0-11110___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(NR8361), Z(MSM0021620806), Z(MSM0021620808)
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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/00216208:11110/08:1920
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency; Lesch-Nyhan disease variants; hyperuricemia; gout (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
| - Nucleosides, Nucleotides and Nucleic Acids
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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
| - Rychlík, Ivan
- Stibůrková, Blanka
- Šebesta, Ivan
- Dvořáková, Lenka
- Vernerová, Zdeňka
- Hřebíček, Martin
- Stolnaja, Larisa
- Minks, Jakub
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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://localhost/t...ganizacniJednotka
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is http://linked.open...avai/riv/vysledek
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