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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

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Description scientific article
Author/s

author: Vincent Morinière  Marie-Alice Macher  Nathalie Boddaert  Sophie Saunier  Corinne Antignac  Patrick Niaudet 

Publication date May 2007
Language English
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