{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:13:08Z","timestamp":1790399588579,"version":"4.1.0"},"publisher-location":"Boston, MA","reference-count":6,"publisher":"Springer US","isbn-type":[{"value":"9780387284644","type":"print"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.1007\/0-387-32442-9_2","type":"book-chapter","created":{"date-parts":[[2007,8,3]],"date-time":"2007-08-03T12:21:57Z","timestamp":1186143717000},"page":"9-14","source":"Crossref","is-referenced-by-count":7,"title":["Disease-Associated Variants of the Rod-derived Cone Viability Factor (RdCVF) in Leber Congenital Amaurosis"],"prefix":"10.1007","author":[{"given":"Sylvain","family":"Hanein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Perrault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Gerber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Dufier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josu\u00e9","family":"Feingold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shomi","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josseline","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Rozet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Leveillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"issue":"4","key":"2_CR1","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1002\/humu.20010","volume":"23","author":"S. Hanein","year":"2004","unstructured":"Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., Munier, F., Santos, L., Shalev, S., Zafeiriou, D., Dufier, J.L., Munnich, A., Rozet, J.M., Kaplan, J., 2004, Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 23(4):306\u201317.","journal-title":"Hum Mutat"},{"key":"2_CR2","first-page":"635","volume":"86","author":"J. Kaplan","year":"1990","unstructured":"Kaplan, J., Bonneau, D., Frezal, J., Munnich, A., Dufier, J.L., 1990, Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 86:635\u201342.","journal-title":"Hum Genet"},{"issue":"1","key":"2_CR3","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1086\/341031","volume":"71","author":"N. Katsanis","year":"2002","unstructured":"Katsanis, N., Eichers, E.R., Ansley, S.J., Lewis, R.A., Kayserili, H., Hoskins, B.E., Scambler, P.J., Beales, P.L., Lupski, J.R., 2002. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet 71(1):22\u20139.","journal-title":"Am J Hum Genet"},{"issue":"7","key":"2_CR4","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1038\/ng1386","volume":"36","author":"T. Leveillard","year":"2004","unstructured":"Leveillard, T., Mohand-Said, S., Lorentz, O., Hicks, D., Fintz, A.C., Clerin, E., Simonutti, M., Forster, V., Cavusoglu, N., Chalmel, F., Dolle, P., Poch, O., Lambrou, G., Sahel, J.A., 2004, Identification and characterization of rod-derived cone viability factor. Nat Genet 36(7):755\u20139.","journal-title":"Nat Genet"},{"issue":"14","key":"2_CR5","doi-asserted-by":"publisher","first-page":"8357","DOI":"10.1073\/pnas.95.14.8357","volume":"95","author":"S. Mohand-Said","year":"1998","unstructured":"Mohand-Said, S., Deudon-Combe, A., Hicks, D., Simonutti, M., Forster, V., Fintz, A.C., Leveillard, T., Dreyfus, H., Sahel, J.A., 1998, Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse. Proc Natl Acad Sci U S A 7;95(14):8357\u201362.","journal-title":"Proc Natl Acad Sci U S A 7"},{"key":"2_CR6","unstructured":"Allikmets, R.L., Zernant, J., Perrault, I., den Hollander, A., Dharmaraj, S., F.P., Cremers, M., Kaplan, J., Koenekoop, R.K., Maumenee., I., 2004, Multiallelic inheritance and\/or modifier alleles in leber congenital amaurosis: analysis with the lca disease chip, ARVO Meeting (2444\/B79)."}],"container-title":["Advances in Experimental Medicine and Biology","Retinal Degenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/0-387-32442-9_2.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T15:15:48Z","timestamp":1605626148000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/0-387-32442-9_2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[null]]},"ISBN":["9780387284644"],"references-count":6,"URL":"https:\/\/doi.org\/10.1007\/0-387-32442-9_2","relation":{},"subject":[]}}