Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthiese 3

Die Nephronophthiese 3 ist eine autosomal rezessive vererbte medulläre Zystennierenerkrankung, die sich im Unterschied zu den anderen Formen der Nephronophthiese erst im Erwachsenenalter manifestiert.

Systematic

Nephronophthiese
Nephronophthiese 1
Nephronophthiese 2
Nephronophthiese 3
NPHP3
Nephronophthiese 4
Nephronophthiese 5
Nephronophthiese 6
Nephronophthiese 9

References:

1.

Omran H et al. (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

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2.

Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

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3.

Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

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4.

Komatsuda A et al. (2006) Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.

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