Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia
Broschiertes Buch

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia

Proceedings of the 23rd Annual Symposium of the SSIEM, Liverpool, September 1985

Herausgegeben: Addison, G. M.; Harkness, R. Angus; Isherwood, D.M; Pollitt, R. J.
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The 23rd Annual Symposium of the SSIEM: Liverpool.- to recombinant DNA.- Human biochemical genetics of enzyme proteins in the new age of molecular genetics.- Direct DNA analysis in family studies.- Application and limitations of direct DNA analysis in genetic prediction.- DNA analysis for ornithine transcarbamylase deficiency.- Molecular genetics of PKU.- Human DNA repair defects.- Molecular basis of ai-antitrypsin deficiency and its potential therapy by gene transfer.- Direct alteration of a gene in the human genome.- Diabetes mellitus, atherosclerosis, and the 5' flanking polymorphism of the...