The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies
In the majority of inherited disease we are faced with the following situation: we usually know the clinical phenotype — including even its variations — and the mode of inheritance. In many cases, we also have identified the relevant genes and maybe even the mutations in these genes. With the advent of molecular methods in human genetics, knowledge about specific genes and their mutations is rapidly growing. Nonetheless, the relationship between the genotype and the phenotype more often than not is shrouded in complete ignorance. For example in many diseases we do not understand the mechanism leading from the genotype to the phenotype nor do we know anything about the causes of variation within the clinical picture.
KeywordsAdenosine Deaminase Ribonucleotide Reductase Chorionic Villus Severe Combine Immunodeficiency Disease Methylation Index
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