A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 1, 2015, Pages 150-155

  Wang, Feng ^a   Li, Huajin ^b   Xu, Mingchu ^a   Li, Hui ^b   Zhao, Li ^a,c   Yang, Lizhu ^b   Zaneveld, Jacques E ^a   Wang, Keqing ^a   Li, Yumei ^a   Sui, Ruifang ^b   Chen, Rui ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^c Baylor College of Medicine ^*  (United States)

Author keywords

Genotype phenotype correlation; NEUROD1; Nextgeneration sequencing; Retina; Retinitis pigmentosa

Indexed keywords

NEUROGENIC DIFFERENTIATION FACTOR; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; DNA; NEUROD1 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CASE REPORT; ELECTRORETINOGRAPHY; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSYNDROMIC AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCORING SYSTEM; SEQUENCE ANALYSIS; VISUAL ACUITY; WHOLE EXOME SEQUENCING; DNA MUTATIONAL ANALYSIS; GENETICS; HOMOZYGOTE; METABOLISM; PEDIGREE; PHENOTYPE; RECESSIVE GENE;

ADULT; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA;

EID: 84920926130     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-15382     Document Type: Article

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