Initial diagnoses of patients found to be homozygous for a
KCNV2
founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*)
Ophthalmic Genet
.
2023 Oct;44(5):512-514.
doi: 10.1080/13816810.2022.2135114.
Epub 2022 Oct 24.
Authors
Zabila Khan
1
,
Arif O Khan
1
2
Affiliations
1
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
2
Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.
PMID:
36278409
DOI:
10.1080/13816810.2022.2135114
No abstract available
Publication types
Letter
MeSH terms
Homozygote
Humans
Mutation
Potassium Channels, Voltage-Gated* / genetics
Substances
KCNV2 protein, human
Potassium Channels, Voltage-Gated