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Mutational analysis of the BMP-1 gene in patients with gastroschisis

✍ Scribed by Hiroaki Komuro; Masato Mori; Yasuhide Hayashi; Masafumi Fukagawa; Shun-ichi Makino; Kazuhiko Takahara; Daniel S. Greenspan; Mariko Y. Momoi

Book ID
117827076
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
71 KB
Volume
36
Category
Article
ISSN
0022-3468

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Mutational analysis of the NPHP4 gene in
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
✍ Julia Hoefele; Ralf Sudbrak; Richard Reinhardt; Silvia Lehrack; Steffen Hennig; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 131 KB πŸ‘ 1 views

## Communicated by JΓΌrgen 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,