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1.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Nat Genet
; 39(7): 875-81, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17558409
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.
J Am Soc Nephrol
; 18(5): 1566-75, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17409309
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