The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in Italian patients with homocystinuria. The first mutation is a G-to-A transition at base 374 in exon 3, causing an arginine-to-glutamic acid substitution at position 125 of the protein (R125Q). This mutation has...

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Autores principales: Sebastio, G, Sperandeo, M P, Panico, M, de Franchis, R, Kraus, J P, Andria, G
Formato: Artigo
Lenguaje:Inglês
Publicado: 1995
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801112/
https://ncbi.nlm.nih.gov/pubmed/7762555
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