Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

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Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.

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P2860

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

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2014 nî lūn-bûn

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2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2014 թվականի օգոստոսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Mutation screening of retinal ...... nd next generation sequencing.

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Mutation screening of retinal ...... nd next generation sequencing.

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Mutation screening of retinal ...... nd next generation sequencing.

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Mutation screening of retinal ...... nd next generation sequencing.

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Mutation screening of retinal ...... nd next generation sequencing.

@ast

Mutation screening of retinal ...... nd next generation sequencing.

@en

Mutation screening of retinal ...... nd next generation sequencing.

@en-gb

Mutation screening of retinal ...... nd next generation sequencing.

@nl

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Mutation screening of retinal ...... nd next generation sequencing.

@ast

Mutation screening of retinal ...... nd next generation sequencing.

@en

Mutation screening of retinal ...... nd next generation sequencing.

@en-gb

Mutation screening of retinal ...... nd next generation sequencing.

@nl

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2-s2.0-84929130185

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PLOS ONE

P1476

Mutation screening of retinal ...... nd next generation sequencing.

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P2093

Colin A Johnson

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Eamonn Sheridan

http://www.w3.org/2001/XMLSchema#string

Graham Taylor

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Joanne E Morgan

http://www.w3.org/2001/XMLSchema#string

Manir Ali

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Martin McKibbin

http://www.w3.org/2001/XMLSchema#string

Mohammed El-Asrag

http://www.w3.org/2001/XMLSchema#string

Ruth Charlton

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P2860

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

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Mutations in the CRB1 gene cause Leber congenital amaurosis

Effect of gene therapy on visual function in Leber's congenital amaurosis

A framework for variation discovery and genotyping using next-generation DNA sequencing data

The frequency of consanguineous marriage among British Pakistanis.

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing.

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e104281

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scholarly article

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10.1371/JOURNAL.PONE.0104281

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English

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264830071

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80872/

journal.pone.0104281