Evaluation of the risk in autosomal dominant diseases |
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| Authors: | J Kaplan A Toutain M L Briard J Frézal |
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| Affiliation: | Clinique et Unité de Recherche de Génétique Médicale, H?pital des Enfants Malades, Paris. |
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| Abstract: | A lot of traps and difficulties complicate the estimation of a genetic risk in the autosomal dominant diseases. The authors recapitulate the notions of mutation, penetrance and variability and illustrate by some examples the part of each of them, isolated or associated together. The increasing of molecular biology allows to resolve some of these problems, but generate new dangers which are analysed and illustrated. |
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