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Through previous editions, this publication has gained a reputation for in-depth examination of the clinical picture of and biochemical basis for many specific genetic disorders. It has provided a single, comprehensive reference source for diagnosis, metabolism, and treatment. The publication's previously high level of expertise is evident in this new, two-volume edition that includes both revisions and new material.
Part I includes introductory chapters that address general themes, applications of molecular genetics to inherited disorders, biogenesis of membranes and organelles, HLA complex, oncogenes, and use of genetic markers. It also includes two appendices: a list of references to diagnostic DNA
The Metabolic Basis of Inherited Disease. Ann Intern Med. ;112:389. doi: 10.7326/0003-4819-112-5-389_2
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Published: Ann Intern Med. 1990;112(5):389.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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