Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5566-5568. doi: 10.1167/iovs.18-25944.

Authors

Frans P M Cremers^{1

2}, Stéphanie S Cornelis^{1

2}, Esmee H Runhart^{2

3}, Galuh D N Astuti^{1

4}

Affiliations

¹ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
² Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
³ Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
⁴ Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

PMID: 30480704
DOI: 10.1167/iovs.18-25944

No abstract available

Publication types

Letter
Comment

MeSH terms

ATP-Binding Cassette Transporters / genetics
Alleles
DNA Mutational Analysis
Humans
Macular Degeneration / congenital
Macular Degeneration / genetics*
Penetrance
Stargardt Disease

Substances

ABCA4 protein, human
ATP-Binding Cassette Transporters