Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa

Ophthalmic Genet. 2018 Apr;39(2):286-287. doi: 10.1080/13816810.2017.1393827. Epub 2017 Nov 7.

Authors

Tisiana Low¹, Anastassios Kostakis², Meena Balasubramanian³

Affiliations

¹ a Sheffield Teaching Hospitals NHS Foundation Trust , Sheffield , UK.
² b Department of Ophthalmology , Doncaster and Bassetlaw Hospital , Worksop , UK.
³ c Sheffield Clinical Genetics Service , Sheffield Children's NHS Foundation Trust , Sheffield , UK.

PMID: 29111861
DOI: 10.1080/13816810.2017.1393827

No abstract available

Publication types

Case Reports

MeSH terms

Carrier Proteins / genetics*
DNA Mutational Analysis
Electroretinography
Female
Genetic Variation*
Heterozygote
Humans
Mutation*
Retinitis Pigmentosa / diagnostic imaging
Retinitis Pigmentosa / genetics*
Tomography, Optical Coherence
Young Adult

Substances

Carrier Proteins
IFT140 protein, human