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See Latest ArticlesIncompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
Kidney International, 01/26/09
Rossetti S et al. - The cases suggest the presence of incompletely penetrant PKD1 alleles. The alleles alone may result in mild cystic disease; two such alleles cause typical to severe disease; and, in combination with an inactivating allele, are associated with early onset disease. The study indicates that the dosage of functional PKD1 protein may be critical for cyst initiation.
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Today in Basic Science/Genetics...keeping you current
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