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Keywords: cysthationine β-synthase
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Articles

Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria

Duaa W. Al-Sadeq, Carolina Conter, Angelos Thanassoulas, Nader Al-Dewik, Bared Safieh-Garabedian, Luis Alfonso Martínez-Cruz, Gheyath K. Nasrallah, Alessandra Astegno, Michail Nomikos
Journal: Biochemical Journal
Biochem J (2024) 481 (8): 569–585.
https://doi.org/10.1042/BCJ20240012
Published: 22 April 2024
... 2024 © 2024 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society 2024 cysthationine β-synthase heme homocystinuria hydrogen sulfide pyridoxal-5′-phosphate Homocystinuria is an autosomal recessive disease characterized by elevated homocysteine...
View articletitled, Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
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Includes: Supplementary data