From Genotype to Phenotype (häftad)
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From Genotype to Phenotype (häftad)

From Genotype to Phenotype

Häftad Engelska, 1994-10-01
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The articles in Issue 4 of the "Journal of Inherited Metabolic Disease", Volume 17 (1994) contain the main lectures presented at the 31st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Manchester, UK, 1993, the theme of which was "From Genotype to Phenotype". Topics discussed include: phenotype expression in homocystinuria; human genome mapping and inherited metabolic disease; genetic imprinting; 21-hydroxylase deficiency; dysmorphic disorders and embryogenesis; signals on proteins; peroxisomal disorders; primary hyperoxaluria type I; metachromatic leukodystrophy; and replacement therapy in Gaucher disease. Participants from many countries provided a state-of-the-art review which should be of interest to clinicians and research workers alike in many different countries.
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Molecular basis of phenotype expression in homocystinuria; J.P. Kraus. Organization of the human genome; I.W. Craig. Genetic imprinting in the mouse: implications for gene regulation; B.M. Cattanach, J. Jones. Relevance of the Human Genome Project to inherited metabolic disease; J. Burn. Molecular pathology of 21-hydroxylase deficiency; T. Strachan. Dysmorphic disorders - an overview; D. Donnai. Metabolic disorders of embryogenesis; G.K. Brown. Signals on proteins, intracellular targeting and inborn errors of organellar metabolism; J.M. Tager, J.F.M.G. Aerts, C. van den Bogert, R.J.A. Wanders. Peroxisomal disorders: a review; B. Fournier, J.A. Smeitink, L. Dorland, R. Berger, J.M. Saudubray, B.T. Poll-The. Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity; C.J. Danpure, P.R. Jennings, P. Fryer, P.E. Purdue, J. Allsop. Molecular genetics of metachromatic leukodystrophy; V. Gieselmann, A. Polten, J. Kreysing, K. von Figura. Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease; R.O. Brady, G.J. Murray, N.W. Barton.