{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T06:12:07Z","timestamp":1750227127784},"reference-count":38,"publisher":"Media Sphere Publishing Group","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vestn. oftal'mol."],"published-print":{"date-parts":[[2018]]},"DOI":"10.17116\/oftalma201813404168","type":"journal-article","created":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T14:25:06Z","timestamp":1535639106000},"page":"68","source":"Crossref","is-referenced-by-count":4,"title":["Inherited retinal diseases in patients with ABCA4 gene mutations"],"prefix":"10.17116","volume":"134","author":[{"given":"N. L.","family":"Sheremet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. G.","family":"Grushke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. V.","family":"Zhorzholadze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. S.","family":"Tanas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. V.","family":"Strelnikov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"6743","reference":[{"key":"key-10.17116\/oftalma201813404168-1","doi-asserted-by":"crossref","unstructured":"Meunier I, Bouvet-Drumare I, Zanlonghi X, Mauget-Faysse M, Arndt C, Hamel C, Affortit A, Defoort-Dhellemmes S, Puech B. Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies. Selected Topics in Optical Coherence Tomography. 2012;147-170.","DOI":"10.5772\/31781"},{"key":"key-10.17116\/oftalma201813404168-2","unstructured":"RetNet: https:\/\/sph.uth.edu\/Retnet\/sum-dis.htm"},{"key":"key-10.17116\/oftalma201813404168-3","doi-asserted-by":"crossref","unstructured":"Higgins CF. ABC transporters: from microorganisms to man . Annu Rev Cell Biol. 1992;8:67-113.","DOI":"10.1146\/annurev.cb.08.110192.000435"},{"key":"key-10.17116\/oftalma201813404168-4","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-18190"},{"key":"key-10.17116\/oftalma201813404168-5","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-8182"},{"key":"key-10.17116\/oftalma201813404168-6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014"},{"key":"key-10.17116\/oftalma201813404168-7","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2015.11.011"},{"key":"key-10.17116\/oftalma201813404168-8","doi-asserted-by":"publisher","DOI":"10.17116\/oftalma201713344-11"},{"key":"key-10.17116\/oftalma201813404168-9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.04.002"},{"key":"key-10.17116\/oftalma201813404168-10","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-19936"},{"key":"key-10.17116\/oftalma201813404168-11","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.23"},{"key":"key-10.17116\/oftalma201813404168-12","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201258"},{"key":"key-10.17116\/oftalma201813404168-13","doi-asserted-by":"publisher","DOI":"10.1086\/303079"},{"key":"key-10.17116\/oftalma201813404168-14","unstructured":"Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N. Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Mol Vis. 2016;22:150-160."},{"key":"key-10.17116\/oftalma201813404168-15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.23.2671"},{"key":"key-10.17116\/oftalma201813404168-16","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2008.148155"},{"key":"key-10.17116\/oftalma201813404168-17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.355"},{"key":"key-10.17116\/oftalma201813404168-18","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-34425"},{"key":"key-10.17116\/oftalma201813404168-19","unstructured":"Maia-Lopes S, Aguirre-Lamban J, Castelo-Branco M, Riveiro-Alvarez R, Ayuso C, Silvia ED. ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis. Mol Vis. 2009;15:584-591."},{"key":"key-10.17116\/oftalma201813404168-20","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt367"},{"key":"key-10.17116\/oftalma201813404168-21","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22717"},{"key":"key-10.17116\/oftalma201813404168-22","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22716"},{"key":"key-10.17116\/oftalma201813404168-23","unstructured":"Mata NL, Tzekov RT, Liu X, Weng J, Birch DG, Travis GH. Delayed dark-adaptation and lipofuscin accumulation in abcr+\/- mice: implications for involvement of ABCR in age-related macular degeneration. Investigative Ophthalmology & Visual Science. 2001;42:1685-1690."},{"key":"key-10.17116\/oftalma201813404168-24","unstructured":"Karandasheva KO, Zhorzholadze NV, Sheremet NL, Kuznetsov EB, Thanas AS, Anoshkin KI, Zaletaev DV, Strelnikov VV. Cryptic splice site mutations in the non-coding regions of the ABCA4 gene in Stargardt disease patients. Medicinskaja genetika. 2016;6:31-36. (In Russ.)"},{"key":"key-10.17116\/oftalma201813404168-25","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07-0244"},{"key":"key-10.17116\/oftalma201813404168-26","doi-asserted-by":"publisher","DOI":"10.1159\/000076886"},{"key":"key-10.17116\/oftalma201813404168-27","doi-asserted-by":"publisher","DOI":"10.1086\/302323"},{"key":"key-10.17116\/oftalma201813404168-28","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100493"},{"key":"key-10.17116\/oftalma201813404168-29","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/940864"},{"key":"key-10.17116\/oftalma201813404168-30","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2013.176"},{"key":"key-10.17116\/oftalma201813404168-31","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-9166"},{"key":"key-10.17116\/oftalma201813404168-32","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-8201"},{"key":"key-10.17116\/oftalma201813404168-33","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2009.02.001"},{"key":"key-10.17116\/oftalma201813404168-34","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-19829"},{"key":"key-10.17116\/oftalma201813404168-35","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi310"},{"key":"key-10.17116\/oftalma201813404168-36","unstructured":"Xi Q, Li L, Traboulsi EI, Wang QK. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease. Mol Vis. 2009;15:638-645."},{"key":"key-10.17116\/oftalma201813404168-37","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn421"},{"key":"key-10.17116\/oftalma201813404168-38","doi-asserted-by":"publisher","DOI":"10.1111\/aos.13273"}],"container-title":["Vestnik oftal'mologii"],"original-title":[],"language":"en","deposited":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T14:37:27Z","timestamp":1535639847000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.mediasphera.ru\/issues\/vestnik-oftalmologii\/2018\/4\/downloads\/ru\/10042465X2018041068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018]]}},"alternative-id":["oftalma201813404168"],"URL":"https:\/\/doi.org\/10.17116\/oftalma201813404168","relation":{},"ISSN":["0042-465X"],"issn-type":[{"value":"0042-465X","type":"print"}],"subject":[],"published":{"date-parts":[[2018]]}}}