Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

doi:10.1136/bjophthalmol-2018-312064

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Article

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British journal of ophthalmology - 1 Mar 2019

Fujinami Kaoru, Strauss Rupert W, Chiang John Pei-Wen, Audo Isabelle S, Bernstein Paul S, Birch David G, Bomotti Samantha M, Cideciyan Artur V, Ervin Ann-Margret, Marino Meghan J, Sahel José-Alain, Mohand-Said Saddek, Sunness Janet S, Traboulsi Elias I, West Sheila, Wojciechowski Robert, Zrenner Eberhart, Michaelides Michel, Scholl Hendrik P N

Abstract excerpt

BACKGROUND/AIMS: To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency. METHODS: 345 participants with a clinical diagnosis of STGD1 and harbouring at least one disease-causing ABCA4 variant were enrolled from 9 centres in the USA and Europe....

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PMID: 29925512
DOI: 10.1136/bjophthalmol-2018-312064
PMCID: PMC6579578

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ABCA4

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