## Communicated by Jürgen Horst Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3) were identified as causative. Extrarenal manifestations are known,
✦ LIBER ✦
Mutational analysis in 119 families with nephronophthisis
✍ Scribed by John F. O’Toole; Edgar A. Otto; Julia Hoefele; Juliana Helou; Friedhelm Hildebrandt
- Book ID
- 106160492
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 110 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0931-041X
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