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

scientific article

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1167/IOVS.13-11672
P932PMC publication ID3684217
P698PubMed publication ID23661369

P50authorRobert KoenekoopQ86185304
Hui WangQ87002813
P2093author name stringRui Chen
Huanan Ren
Irma Lopez
Feng Wang
Xia Wang
Han-Fang Tuan
Li Zhao
Qing Fu
Yumei Li
Fei Xu
Vafa Keser
Ruifang Sui
Keqing Wang
Jacques E Zaneveld
Jason S Salvo
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Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese populationQ24306041
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2Q24533449
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosaQ24560214
Rhodopsin mutations in autosomal dominant retinitis pigmentosaQ24564252
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosaQ24564816
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Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyQ28681602
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SIFT: Predicting amino acid changes that affect protein functionQ29547211
Retinitis pigmentosaQ29616538
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesQ30440790
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Prevalence and mode of inheritance of major genetic eye diseases in China.Q33675903
An integrative variant analysis suite for whole exome next-generation sequencing dataQ34125655
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.Q34396871
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophyQ34414587
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese familyQ34429120
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.Q35047344
Rhodopsin mutations in Chinese patients with retinitis pigmentosaQ35321232
RDH12 retinopathy: novel mutations and phenotypic description.Q35531727
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.Q35883304
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseasesQ35959606
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.Q36051605
Next-generation genetic testing for retinitis pigmentosaQ36375321
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Molecular characterization of retinitis pigmentosa in Saudi ArabiaQ37452605
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.Q41911092
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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset diseaseQ42961888
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Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosaQ85014358
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectpatientQ181600
retinitis pigmentosaQ847057
P304page(s)4158-4166
P577publication date2013-06-14
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleNext-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa
P478volume54

Reverse relations

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