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The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment

✍ Scribed by Leo A.J. Kluijtmans; Godfried H.J. Boers; Jan P. Kraus; Lambert P. W.J. van den Heuvel; Johan R.M. Cruysberg; Frans J.M. Trijbels; Henk J. Blom

Book ID: 117852872
Publisher: American Society of Human Genetics
Year: 1999
Tongue: English
Weight: 116 KB
Volume: 65
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302439

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Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. It is inherited as an autosomal recessive trait and common clinical features are: dislocation of the optic lens, osteoporosis, mental retardation, and thromboembolism. We determined the molecular basis of CBS de