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Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations

Kellner, Ulrich, Stöhr, Heidi, Weinitz, Silke, Farmand, Ghazaleh and Weber, Bernhard H. F. (2017) Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. Ophthalmic Genetics.

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Other URL: http://doi.org/10.1080/13816810.2016.1227459


Abstract

Purpose: To report the clinical and molecular genetic findings in two brothers with retinitis pigmentosa (RP) and mevalonate kinase deficiency (MKD). Methods: The brothers were examined clinically and with fundus autofluorescence, near-infrared auto fluorescence, and Spectral domain optical coherence tomography. Targeted resequencing was done with a custom designed gene panel containing 78 genes ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1080/13816810.2016.1227459DOI
28095071PubMed ID
Keywords:PERIODIC-FEVER-SYNDROME; IDENTIFICATION; PHENOTYPE; SPECTRUM; ACIDURIA; Ataxia; fundus autofluorescence; mevalonate kinase deficiency; retinitis pigmentosa
Dewey Decimal Classification:600 Technology > 600 Technology (Applied sciences)
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:35106
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