The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate-Reference-Cited by-同舟云学术

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

Published:2020-05-28 Issue:7 Volume:28 Page:925-937
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Green Jane S.,O’Rielly Darren D.^ORCID,Pater Justin A.,Houston Jim,Rajabi Hoda,Galutira Dante,Benteau Tammy,Sheaves Amy,Abdelfatah Nelly,Bautista Donna,Whelan Jim,Young Terry-Lynn

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-020-0581-4.pdf

Reference55 articles.

1. Timpson NJ, Greenwood CMT, Soranzo N, Lawson DJ, Richards JB. Genetic architecture: the shape of the genetic contribution to human traits and disease. Nat Rev Genet. 2018;19:110–24.

2. Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, et al. Early-onset stargardt disease: phenotypic and genotypic characteristics. Ophthalmology. 2015;122:335–44.

3. Burke TR, Tsang SH. Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet. 2011;32:165–74.

4. Michaelides M, Hunt DM, Moore AT. The genetics of inherited macular dystrophies. J Med Genet. 2003;40:641–50.

5. Fujinami K, Lois N, Davidson AE, Mackay DS, Hogg CR, Stone EM, et al. A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. Am J Ophthalmol. 2013;155:1075–88. e1013.

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