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Showing 1 to 2 of 2 for “"Ziliopathie"”.
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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 …
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Identifikation und Charakterisierung von Interaktionspartnern des Zystennierenproteins DZIP1L
Polycystic kidney diseases are the most common genetic disorders; the underlying pathomechanisms are incompletely understood so far. One of the involved in the formation of cystic kidneys genes is DZIP1L. DZIP1L has previously been identified in our group as a new gene for polycystic kidney disease …