Nephrocystin 4
Mutationen des Nephrocystin 4 führen zur autosomal rezessiven Erkrankung, der juvenilen Nephronophthise 4.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.
|
2. |
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.
|
4. |
NCBI article
NCBI 261734
|
5. |
OMIM.ORG article
Omim 607215
|
6. |
Orphanet article
Orphanet ID 123884
|
Update: 14. August 2020