Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome ana Senior-Løken syndrome

Juliana Helou, Edgar A. Otto, Massimo Attanasio, Susan J. Allen, Melissa A. Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F. O'Toole, John A. Sayer, Friedhelm Hildebrandt

Research output: Contribution to journalArticlepeer-review

74 Scopus citations

Fingerprint

Dive into the research topics of 'Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome ana Senior-Løken syndrome'. Together they form a unique fingerprint.

Medicine & Life Sciences