Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

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Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

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http://www.wikidata.org/entity/Q58733398

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Schnyder corneal dystrophy and ...... t mutations in the UBIAD1 gene

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Schnyder corneal dystrophy and ...... t mutations in the UBIAD1 gene

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Schnyder corneal dystrophy and ...... t mutations in the UBIAD1 gene

@en

Schnyder corneal dystrophy and ...... t mutations in the UBIAD1 gene

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Schnyder corneal dystrophy and ...... t mutations in the UBIAD1 gene

@en

Schnyder corneal dystrophy and ...... t mutations in the UBIAD1 gene

@nl

P1476

Schnyder corneal dystrophy and ...... t mutations in the UBIAD1 gene

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P2093

Ales Horinek

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Cerys J Evans

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Gabriela Mahelkova

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Pavlina Skalicka

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Stephen J Tuft

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P2860

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes

Analysis of protein-coding genetic variation in 60,706 humans

A method and server for predicting damaging missense mutations

Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III)

IC3D classification of corneal dystrophies--edition 2

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

P2888

s12886-018-0918-8

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250

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scholarly article

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10.1186/S12886-018-0918-8

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English

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P478

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Petra Lišková

Lubica Dudakova

Alison J Hardcastle

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2018-09-17T00:00:00Z

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P6179

1107066681

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30223810

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6142341

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