Identification of an NPHP1 deletion causing adult form of nephronophthisis
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11845-015-1312-7.pdf
Reference29 articles.
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2. Hildebrandt F, Zhou W (2007) Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 18(6):1855–1871. doi: 10.1681/ASN.2006121344
3. Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kaariainen H (1998) Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. J Med Genet 35(4):279–283
4. Blowey DL, Querfeld U, Geary D, Warady BA, Alon U (1996) Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol 10(1):22–24
5. Wolf MT, Hildebrandt F (2011) Nephronophthisis. Pediatr Nephrol 26(2):181–194. doi: 10.1007/s00467-010-1585-z
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