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Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients

✍ Scribed by Kristel Goossens; Achmad Z. Juniarto; Marianna A. Timmerman; Sultana M. H. Faradz; Katja P. Wolffenbuttel; Stenvert L. S. Drop; Frank H. De Jong


Book ID
108704419
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
159 KB
Volume
71
Category
Article
ISSN
0300-0664

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✍ Mette Gaustadnes; Bridget Wilcken; Jana Oliveriusova; Jim McGill; Janice Fletche πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 162 KB

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