Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

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http://www.wikidata.org/entity/Q33812331
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.Germ-line and somatic EPHA2 coding variants in lens aging and cataract.ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.Novel mutations in identified by targeted exome sequencing in Chinese families with congenital cataract
P2860

Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

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http://www.wikidata.org/entity/Q33812331
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2014 nî lūn-bûn
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2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2014 թվականի հունիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年學術文章
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Exome sequencing of 18 Chinese ...... : a new sight of the NHS gene.
@ast
Exome sequencing of 18 Chinese ...... : a new sight of the NHS gene.
@en
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label
Exome sequencing of 18 Chinese ...... : a new sight of the NHS gene.
@ast
Exome sequencing of 18 Chinese ...... : a new sight of the NHS gene.
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prefLabel
Exome sequencing of 18 Chinese ...... : a new sight of the NHS gene.
@ast
Exome sequencing of 18 Chinese ...... : a new sight of the NHS gene.
@en
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Exome sequencing of 18 Chinese ...... : a new sight of the NHS gene.
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P2093
P2860
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P31
P356
10.1371/JOURNAL.PONE.0100455
P407
P433
P478
P577
P5875
P698
P921
P932