Publications:

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

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: STGD1: 5084C>A

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp004.pdf

View BVdb publication page

Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP).

Investigative Ophthalmology & Visual Science

Lazow, Margot A MA; Hood, Donald C DC; Ramachandran, Rithambara R; Burke, Tomas R TR; Wang, Yi-Zhong YZ; Greenstein, Vivienne C VC; Birch, David G DG

Publication Date: 2011-12-20

Variant appearance in text: ABCA4: A1695D

PubMed Link: 22076985

Variant Present in the following documents:

• Main text

View BVdb publication page