Associated Papers
Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.
Kolarikova K et al.
Frontiers in Neuroscience, 2022
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.
Kumar J et al.
Circulation. Cardiovascular Genetics, 2009
20031640 (PubMed )
Supplement: 841411_supplemental_material.pdf
Human S-adenosylhomocysteine hydrolase: common gene sequence variation and functional genomic characterization.
Feng Q et al.
Journal of Neurochemistry, 2009
S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues.
Beluzić R et al.
Biochemical and Biophysical Research Communications, 2008
Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3.
Fumić K et al.
European Journal of Human Genetics : Ejhg, 2007
Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.
Gellekink H et al.
European Journal of Human Genetics : Ejhg, 2004
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