Literature DB >> 30264510

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

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Abstract

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Year:  2018        PMID: 30264510      PMCID: PMC6160707          DOI: 10.1002/mgg3.462

Source DB:  PubMed          Journal:  Mol Genet Genomic Med        ISSN: 2324-9269            Impact factor:   2.183


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In Poloni et al. (2018), the mutation described in Table 1, page 5, patient n.29 was incorrectly described as “c.864_868delGAG, p.(Glu289del),” while the correct description is “c.863_867delGCAGA, p.(Ala288 fs).” We apologize for this error.
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1.  CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Authors:  Soraia Poloni; Fernanda Sperb-Ludwig; Taciane Borsatto; Giovana Weber Hoss; Maria Juliana R Doriqui; Emília K Embiruçu; Ney Boa-Sorte; Charles Marques; Chong A Kim; Carolina Fischinger Moura de Souza; Helio Rocha; Marcia Ribeiro; Carlos E Steiner; Carolina A Moreno; Pricila Bernardi; Eugenia Valadares; Osvaldo Artigalas; Gerson Carvalho; Hector Y C Wanderley; Johanna Kugele; Melanie Walter; Lorena Gallego-Villar; Henk J Blom; Ida Vanessa D Schwartz
Journal:  Mol Genet Genomic Med       Date:  2018-01-20       Impact factor: 2.183

  1 in total

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