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Article

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

24 Oct 2007

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17960139
DOI: 10.1038/sj.ki.5002630

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Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisPMID 17960139Read ↗

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Exploring the genetics of nephronophthisis and Joubert Syndrome…more than monogenic cystic renal diseases?!Semantic proximity Read ↗

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Semantic proximity Read ↗

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