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Academic Journal

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

  • Authors : Urreizti R; Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal, 645, 08028, Barcelona, Spain.; Asteggiano C

Subjects: Mutation* ; Prevalence*; Cystathionine beta-Synthase/Cystathionine beta-Synthase/Cystathionine beta-Synthase/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2006; Vol. 51 (4), pp. 305-313. Date of Electronic Publication: 2006 Feb 15.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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