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OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells. [electronic resource] by
- Montjean, Rodrick
- Aoidi, Rifdat
- Desbois, Pierrette
- Rucci, Julien
- Trichet, Michaël
- Salomon, Rémi
- Rendu, John
- Fauré, Julien
- Lunardi, Joël
- Gacon, Gérard
- Billuart, Pierre
- Dorseuil, Olivier
Producer: 20150922
In:
Human molecular genetics vol. 24
Availability: No items available.
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A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis. [electronic resource] by
- Rendina, Domenico
- Esposito, Teresa
- Mossetti, Giuseppe
- De Filippo, Gianpaolo
- Gianfrancesco, Fernando
- Perfetti, Anna
- Magliocca, Sara
- Formisano, Pietro
- Prié, Dominique
- Strazzullo, Pasquale
Producer: 20120723
In:
The Journal of clinical endocrinology and metabolism vol. 97
Availability: No items available.
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