From lowe syndrome to Dent disease: corr
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Haifa Hichri; John Rendu; Nicole Monnier; Charles Coutton; Olivier Dorseuil; Ros
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Article
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2011
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John Wiley and Sons
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English
⚖ 320 KB
Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was eviden