Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease
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Retinal dystrophies, genomic applications in diagnosis and prospects for therapyWhole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.
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Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease
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2014 թուականին հրատարակուած գիտական յօդուած
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2014 թվականին 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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Exome sequencing analysis iden ...... family with Stargardt disease
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Exome sequencing analysis iden ...... family with Stargardt disease
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Exome sequencing analysis iden ...... family with Stargardt disease
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Exome sequencing analysis iden ...... family with Stargardt disease
@ast
Exome sequencing analysis iden ...... family with Stargardt disease
@en
Exome sequencing analysis iden ...... family with Stargardt disease
@nl
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Exome sequencing analysis iden ...... family with Stargardt disease
@ast
Exome sequencing analysis iden ...... family with Stargardt disease
@en
Exome sequencing analysis iden ...... family with Stargardt disease
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P2860
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Exome sequencing analysis iden ...... family with Stargardt disease
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Lulin Huang
Youping Li
Zhenglin Yang
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10.1371/JOURNAL.PONE.0091962
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2014-01-01T00:00:00Z