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
Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA et al.
European Journal of Human Genetics : Ejhg, 2007
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA et al.
Journal of Medical Genetics, 2006
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