Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Polyzystische Nierenerkrankung 4

Die polyzystische Nierenerkrankung 5 ist eine autosomal rezessive polyzystische Nierendegeneration, die durch Mutationen im PKHD1-Gen ausgelöst wird.

Gliederung

Autosomal rezessive polyzystische Nieren und Lebererkrankung
Polyzystische Nierenerkrankung 4
PKHD1
Polyzystische Nierenerkrankung 5

Referenzen:

1.

Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

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2.

Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

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3.

Gupta GK et al. (2000) Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child.

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4.

None (2002) Another cystic mystery solved.

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5.

Guay-Woodford LM et al. (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America.

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6.

Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function.

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7.

Wang S et al. (2004) The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area.

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8.

Zhang MZ et al. (2004) PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells.

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9.

Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

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10.

Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

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11.

Torra R et al. (1996) Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

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12.

Zerres K et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

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13.

OMIM.ORG article

Omim 263200 external link
Update: 14. August 2020
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