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Keywords: Harboyan syndrome
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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

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Subject 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.
https://doi.org/10.1159/000365109
Published Online: 11 December 2014
...Petra Liskova; Lubica Dudakova; Vladimir Tesar; Vladimira Bednarova; Jana Kidorova; Katerina Jirsova; Alice E. Davidson; Alison J. Hardcastle Background/Aims: To identify the underlying molecular genetic cause of disease in a patient with Harboyan syndrome and to perform a detailed assessment...
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