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ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

Purpose. To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). Patients and Methods. This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (ex...

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Main Authors: Satoshi Katagiri, Yuya Negishi, Kei Mizobuchi, Mitsuyoshi Urashima, Tadashi Nakano, Takaaki Hayashi
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Limited 2017-01-01
Colecção:Journal of Ophthalmology
Acesso em linha:http://dx.doi.org/10.1155/2017/1079687
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