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Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.

Biochimica et biophysica acta. General subjects - 1 Jul 2022

Al-Sadeq Duaa W, Thanassoulas Angelos, Islam Zeyaul, Kolatkar Prasanna, Al-Dewik Nader, Safieh-Garabedian Bared, Nasrallah Gheyath K, Nomikos Michail

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Share to Amino Acid Enzymes and Metabolism
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Identifiers

PMID: 35417765
DOI: 10.1016/j.bbagen.2022.130148

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Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.PMID 35417765Read ↗

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