HuGE Literature Finder
Records
1
-
2
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Journal of the American Society of Nephrology : JASN 2007 May 18 (5): 1566-75. Tory Kálmán, Lacoste Tiphanie, Burglen Lydie, Morinière Vincent, Boddaert Nathalie, Macher Marie-Alice, Llanas Brigitte, Nivet Hubert, Bensman Albert, Niaudet Patrick, Antignac Corinne, Salomon Rémi, Saunier Soph |
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American journal of human genetics 2004 Jul 75 (1): 82-91. Parisi Melissa A, Bennett Craig L, Eckert Melissa L, Dobyns William B, Gleeson Joseph G, Shaw Dennis W W, McDonald Ruth, Eddy Allison, Chance Phillip F, Glass Ian |
- Page last reviewed:Jul 25, 2022
- Page last updated:Jan 26, 2023
- Content source: