Nephronophthiese 4
Die Juvenile Nephronophthiese 4 ist eine autosomal rezessiv vererbte Nierenerkrankung, die durch medulläre Zysten und eine progrediente Niereninsuffizienz gekennzeichnet ist.
Systematic
Nephronophthiese
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Nephronophthiese 1
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Nephronophthiese 2
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Nephronophthiese 3
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Nephronophthiese 4
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NPHP4
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Nephronophthiese 5
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Nephronophthiese 6
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Nephronophthiese 9
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References:
| 1. |
Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. [^] |
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Mollet G et al. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. [^] |
| 3. |
Hoefele J et al. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. [^] |
