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Showing 1 to 1 of 1 for “"Nonsensmutation"”.
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Molekulare Charakterisierung des PKHD1-Gens und seines Proteins Polyductin bei autosomal rezessiver polyzystischer Nierenerkrankung
Autosomal recessive polycystic kidney diesease is one of the most common diseases affecting the kidney in childhood. The clinical spectrum is highly variable with ranging from peri- or neonatal demise and survival to adulthood respectively. The ARPKD-gene, PKHD1, is located on chromosome 6p12 and …