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

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

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2017 nî lūn-bûn

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Mevalonate kinase deficiency a ...... thers with MVK gene mutations.

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Mevalonate kinase deficiency a ...... thers with MVK gene mutations.

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Mevalonate kinase deficiency a ...... thers with MVK gene mutations.

@en

Mevalonate kinase deficiency a ...... thers with MVK gene mutations.

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Mevalonate kinase deficiency a ...... thers with MVK gene mutations.

@en

Mevalonate kinase deficiency a ...... thers with MVK gene mutations.

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P1476

Mevalonate kinase deficiency a ...... thers with MVK gene mutations.

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P2093

Ghazaleh Farmand

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Heidi Stöhr

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Silke Weinitz

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Ulrich Kellner

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P2860

Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa

A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.

Spectral domain optical coherence tomography detects early stages of chloroquine retinopathy similar to multifocal electroretinography, fundus autofluorescence and near-infrared autofluorescence.

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Genomic variations of the mevalonate pathway in porokeratosis

Mevalonate kinase deficiency, a metabolic autoinflammatory disease.

Prenylation defects in inherited retinal diseases.

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340-344

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scholarly article

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10.1080/13816810.2016.1227459

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P433

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P478

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Bernhard H Weber

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2017-01-17T00:00:00Z

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28095071

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