Nephrocystin 4
Mutations of nephrocystin 4 cause autosomal recessive juvenile nephronophthisis 4.
Genetests:
Related Diseases:
References:
1. |
Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.
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2. |
Mollet G et al. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
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3. |
Hoefele J et al. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
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4. |
NCBI article
NCBI 261734
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5. |
OMIM.ORG article
Omim 607215
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6. |
Orphanet article
Orphanet ID 123884
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7. |
Wikipedia article
Wikipedia EN (NPHP4)
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Update: Aug. 14, 2020