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.
Date of publication of this fulltext: 27 Jan 2017 14:30
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Details
| Item type | Article | ||||||
| Journal or Publication Title | Ophthalmic Genetics | ||||||
| Publisher: | TAYLOR & FRANCIS INC | ||||||
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| Place of Publication: | PHILADELPHIA | ||||||
| Date | 2017 | ||||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||||
| Identification Number |
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| 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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