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Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History
American Journal of Kidney Diseases, 11/20/08
Reed B et al. - Abdominal ultrasound of affected offspring and their parents for ADPKD diagnosis. Complete screening of PKD1 and PKD2 genes by using genomic DNA from affected offspring; analysis of genomic DNA from both parents to confirm the absence or presence of all DNA variants found. Causes other than de novo pathogenic sequence variants may explain the negative family history of ADPKD in certain families.
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