From Genotype to Phenotype (häftad)
Format
Häftad (Paperback)
Språk
Engelska
Antal sidor
142
Utgivningsdatum
1994-10-01
Upplaga
Reprinted from
Förlag
Kluwer Academic Publishers
Antal komponenter
1
ISBN
9780792388654
From Genotype to Phenotype (häftad)

From Genotype to Phenotype

Häftad Engelska, 1994-10-01
1789
Specialorder (osäker tillgång). Skickas inom 11-20 vardagar.
Fri frakt inom Sverige för privatpersoner.
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.
Visa hela texten

Passar bra ihop

  1. From Genotype to Phenotype
  2. +
  3. Studies in Inherited Metabolic Disease

De som köpt den här boken har ofta också köpt Studies in Inherited Metabolic Disease av G M Addison, J M Connor, R Angus Harkness, R J Pollitt (inbunden).

Köp båda 2 för 2648 kr

Kundrecensioner

Har du läst boken? Sätt ditt betyg »

Bloggat om From Genotype to Phenotype

Innehållsförteckning

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.