CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

doi:10.1002/mgg3.342

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Article

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Molecular genetics & genomic medicine - 1 Mar 2018

Poloni Soraia, Sperb-Ludwig Fernanda, Borsatto Taciane, Weber Hoss Giovana, Doriqui Maria Juliana R, Embiruçu Emília K, Boa-Sorte Ney, Marques Charles, Kim Chong A, Fischinger Moura de Souza Carolina, Rocha Helio, Ribeiro Marcia, Steiner Carlos E, Moreno Carolina A, Bernardi Pricila, Valadares Eugenia, Artigalas Osvaldo, Carvalho Gerson, Wanderley Hector Y C, Kugele Johanna, Walter Melanie, Gallego-Villar Lorena, Blom Henk J, Schwartz Ida Vanessa D

Abstract excerpt

BACKGROUND: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. METHODS: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. All exons and exon-intron boundaries of CBS gene were sequenced. Gene...

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PMID: 29352562
DOI: 10.1002/mgg3.342
PMCID: PMC5902399

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