Voprosy meditsinskoi khimii (ISSN 0042-8809)

Molecular genetic heteroogeneity of inherited diseases

Gaitskhoki V. S .
PubMed Id: 9446319
Year: 1997 vol: 43  issue:5  pages: 290-300
Abstract: The review describes the results of the investigations into molecular heterogeneity of monogenic inherited diseases which could be revealed at the levels of the structure of mutant genes, biochemical phenotype of disease and its clinical manifestations. The multilocus origin of some diseases, the patterns of gene mutations, their types, the bloaks of the gene expression and the variability of the biochemical phenotypes of diseasese are characterized.The data concerning trans–acting mutations causing the specific secondary alterations of the biochemical phenotype and corresponding clinical manifestations are summarized. Some mechanisms of the suppression of pathological phenotype are analyzed.
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Reference: Gaitskhoki V. S ., Molecular genetic heteroogeneity of inherited diseases, Voprosy meditsinskoi khimii, 1997, vol: 43(5), 290-300.