Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

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AUDO, I., BUJAKOWSKA, K., ORHAN, E., POLOSCHEK, C. M., DEFOORT-DHELLEMMES, S., DRUMARE, I., KOHL, S., LUU, T. D., LECOMPTE, O., ZRENNER, E., LANCELOT, M. E., ANTONIO, A., GERMAIN, A., MICHIELS, C., AUDIER, C., LETEXIER, M., SARAIVA, J. P., LEROY, B. P., MUNIER, F. L., MOHAND-SAID, S., LORENZ, B., FRIEDBURG, C., PREISING, M., KELLNER, U., RENNER, A. B., MOSKOVA-DOUMANOVA, V., BERGER, W., WISSINGER, B., HAMEL, C. P., SCHORDERET, D. F., DE BAERE, E., SHARON, D., BANIN, E., JACOBSON, S. G., BONNEAU, D., ZANLONGHI, X., LE MEUR, G., CASTEELS, I., KOENEKOOP, R., LONG, V. W., MEIRE, F., PRESCOTT, K., DE RAVEL, T., SIMMONS, I., NGUYEN, H., DOLLFUS, Helene, POCH, Olivier, LEVEILLARD, T., NGUYEN-BA-CHARVET, K., SAHEL, J. A., BHATTACHARYA, S. S. et ZEITZ, C., 2012. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics [en ligne]. 2012. Vol. 90, n° 2pp. 321-330. [Consultésans date]. DOI 10.1016/j.ajhg.2011.12.007. Consulté de : http://www.ncbi.nlm.nih.gov/pubmed/22325361