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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Dades bibliogràfiques
Publicat a:J Ophthalmol
Autors principals: Katagiri, Satoshi, Negishi, Yuya, Mizobuchi, Kei, Urashima, Mitsuyoshi, Nakano, Tadashi, Hayashi, Takaaki
Format: Artigo
Idioma:Inglês
Publicat: Hindawi 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585540/
https://ncbi.nlm.nih.gov/pubmed/28912966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/1079687
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