- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | 1. lékařská fakulta
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression2005 | Fakulta tělesné výchovy a sportu
- cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expresion2005 | Fakulta tělesné výchovy a sportu
- CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families2002 | 1. lékařská fakulta
- CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families2002 | Fakulta tělesné výchovy a sportu
- Intronová mutace c.903+469T>C v genu MTRR vytváří nový exon splicin enhancer vážící SF2/ASF, vede k aktivaci pseudoexonů a způsobuje homocystinurii typu cblE2010 | 1. lékařská fakulta
- Molecular and functional studies in patients with the cblE type of homocystinuriaPublikace bez příslušnosti k fakultě
- Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data2015 | 1. lékařská fakulta