52 research outputs found

    Studies on the clinical genetics of cancer

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    The Revolutionary progress in molecular genetics of hereditary cancer is pushing the clinical genetics of cancer into an accelerated development. For a discussion of the issues involved, it is important to clarify the vocabulary. Therefore, in Chapter 1 of this thesis a list of definitions is given for frequently used notions in the clinical genetics of cancer. ... Zie: Summary and Future Perspectives

    Application of molecular techniques in population genetic studies of cystic fibrosis in the Netherlands

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    This thesis describes the application of molecular techniques in population genetic studies of cystic fibrosis (CF), the most common serious autosomal recessive disorder affecting Caucasian populations. Birth prevalences in European countries range from 1 in 1700 to 1 in 40,000. The disease is characterized mainly by chronic obstruction and infection of the respiratory tract, meconium ileus, pancreatic insufficiency, and elevated levels of sweat electrolytes.
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