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RPGRIP1 : a novel ciliary gene involved in cerebellar disorders
Author(s) -
Karasinska JM
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00952_3.x
Subject(s) - joubert syndrome , cilium , biology , genetics , gene
The ciliary gene RPGRIP1L is mutated in cerebello‐oculo‐renal syndrome (Joubert syndrome type B) and Meckel syndrome
Delous et al. (2007)
Nature Genetics 39: 875–881 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin interactor, cause Joubert syndrome
Arts et al. (2007)
Nature Genetics 39: 882–888