Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

During the past 20 years, cystathionine β-synthase (CBS) deficiency has been detected in the former Czechoslovakia with a calculated frequency of 1:349,000. The clinical manifestation was typical of homocystinuria, and about half of the 21 patients were not responsive to pyridoxine. Twelve distinct...

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Main Authors: Janošík, Miroslav, Oliveriusová, Jana, Janošíková, Bohumila, Sokolová, Jitka, Kraus, Eva, Kraus, Jan P., Kožich, Viktor
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2001
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226138/
https://ncbi.nlm.nih.gov/pubmed/11359213
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