Výsledky vyhledávání - "Michaela Bouckova"

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency

Autor: Hana Vlaskova, Michaela Bouckova, Milan Jirsa, M. Hrebicek, Gabriela Storkanova, Jitka Eberova, Lenka Dvorakova, Ondrej Luksan, Jakub Minks, Helena Trešlová

Publikováno v: Human Mutation. 31:E1294-E1303

In a female patient with signs of ornithine carbamoyltransferase deficiency (OTCD), the only variation found was a heterozygous single nucleotide substitution c.-366A>G. Determination of transcription start sites of human OTC 95, 119 and 169 bp upstr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bd7012d8b69faeac6e84f9c76c483b
https://doi.org/10.1002/humu.21215

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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

Autor: Anna Hlavatá, M. Hrebicek, Clare E. Beesley, Linda Berná, Hana Vlaskova, Helena Myskova, Lenka Dvorakova, Alzbeta Vazna, Bryan Winchester, Helena Poupetova, Jiri Zeman, Martin Magner, Larisa Stolnaja, Michaela Bouckova

Publikováno v: American Journal of Medical Genetics. Part a

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme α-l-iduronidase (IDUA). Of the 21 Czech and Slovak patients who have been diagnosed with MPS I in the last 30 year

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7289ba6e5c91cb5be6f8301de48815b2
https://doi.org/10.1002/ajmg.a.32812

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