A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder characterized by homocystinuria and multisystem clinical disease. Patients responsive to pyridoxine usually have a milder clinical phenotype than do nonresponsive patients, and we studied the molecular pathology of this...

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Main Authors: Shih, V E, Fringer, J M, Mandell, R, Kraus, J P, Berry, G T, Heidenreich, R A, Korson, M S, Levy, H L, Ramesh, V
Formato: Artigo
Idioma:Inglês
Publicado: 1995
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801250/
https://ncbi.nlm.nih.gov/pubmed/7611293
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