Table of Genetic Disorders
screening and treatable Polycystic Kidney Disease Mutations in either polycystin-1 (PKD1) or polycystin-2 (PKD2) gene Autosomal dominant (disease appears to follow a “two-hit model”, requiring the loss of both alleles of PDK1 or PDK2 for the disease to be evident. Heterozygous individuals are predisposed to polycystic kidney
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www.meddean.luc.eduPolycystic Kidney Disease Mutations in either polycystin-1 (PKD1) or polycystin-2 (PKD2) gene Autosomal dominant (disease appears to follow a “two-hit model”, requiring the loss of both alleles of PDK1 or PDK2 for the disease to be evident. Heterozygous individuals are predisposed to polycystic kidney disease because they are likely to
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