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Keywords: SLC4A11
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Journal Articles
Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation
Available to PurchaseSubject Area:
Ophthalmology
Petra Liskova, Lubica Dudakova, Vladimir Tesar, Vladimira Bednarova, Jana Kidorova, Katerina Jirsova, Alice E. Davidson, Alison J. Hardcastle
Journal:
Ophthalmic Research
Ophthalmic Res (2015) 53 (1): 30–35.
Published Online: 11 December 2014
... of her renal function. We also assessed the influence of the SLC4A11 mutation identified on the corneal endothelium in the heterozygous state. Methods: A 55-year-old female was examined ophthalmologically, audiologically and nephrologically including 24-hour urine collection. The coding region of SLC4A11...
