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Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
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Molecular Genetics & Genomic Medicine, 2020
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The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
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Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
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Human Mutation, 2004
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