A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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2017年学术文章

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2017年学术文章

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A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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P1476

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

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P2093

Eeva-Marja Sankila

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Kristiina Aittomäki

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Kristiina Avela

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Liina Kuuluvainen

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Sanna Seitsonen

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Stephanie Barton

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Stuart Gillies

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P2860

Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Wild-type levels of ceramide and ceramide-1-phosphate in the retina of ceramide kinase-like-deficient mice

Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules

P31

scholarly article

P356

10.1111/AOS.13551

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P577

2017-10-25T00:00:00Z

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P698

29068140

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P921

Finland