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Results: 1-2 |
Results: 2
OCRL1 mutation analysis in French Lowe syndrome patients: Implications formolecular diagnosis strategy and genetic counseling
Authors: Monnier, N Satre, V Lerouge, E Berthoin, F Lunardi, J
Citation: N. Monnier et al., OCRL1 mutation analysis in French Lowe syndrome patients: Implications formolecular diagnosis strategy and genetic counseling, HUM MUTAT, 16(2), 2000, pp. 157-165
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene
Authors: Satre, V Monnier, N Berthoin, F Ayuso, C Joannard, A Jouk, PS Lopez-Pajares, I Megabarne, A Philippe, HJ Plauchu, H Torres, ML Lunardi, J
Citation: V. Satre et al., Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene, AM J HU GEN, 65(1), 1999, pp. 68-76
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