Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nephronophthise 3

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

Gliederung

Nephronophthise
Nephronophthise 1
Nephronophthise 10
Nephronophthise 11
Nephronophthise 12
Nephronophthise 13
Nephronophthise 14
Nephronophthise 15
Nephronophthise 16
Nephronophthise 17
Nephronophthise 18
Nephronophthise 19
Nephronophthise 2
Nephronophthise 3
NPHP3
Nephronophthise 4
Nephronophthise 5
Nephronophthise 6
Nephronophthise 7
Nephronophthise 8
Nephronophthise 9

Referenzen:

1.

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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2.

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

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3.

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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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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