Associated Papers
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
Tuz K et al.
The Journal of Biological Chemistry, 2013
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.
Tory K et al.
Journal of the American Society of Nephrology : Jasn, 2007
Genotypes and phenotypes of Joubert syndrome and related disorders.
Valente EM et al.
European Journal of Medical Genetics, 0
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