A homozygous frameshift mutation in BEST1 causes the classical form of best disease in an autosomal recessive mode

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 8, 2011, Pages 5332-5338

  Bitner, Hanna ^a   Mizrahi Meissonnier, Liliana ^a   Griefner, Gabriel ^a   Erdinest, Inbar ^a   Sharon, Dror ^a   Banin, Eyal ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEST1 GENE; CHILD; CLINICAL ARTICLE; COLOR VISION TEST; CONTROLLED STUDY; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENOTYPING TECHNIQUE; HETEROZYGOSITY; HUMAN; MALE; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA VITELLIFORM DEGENERATION; SCHOOL CHILD; AMINO ACID SEQUENCE; FLUORESCENCE ANGIOGRAPHY; GENETICS; HOMOZYGOTE; INHERITANCE; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PHENOTYPE; RECESSIVE GENE; RETINA MACULA DEGENERATION; VISUAL ACUITY;

BEST1 PROTEIN, HUMAN; CHLORIDE CHANNEL; EYE PROTEIN;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; FRAMESHIFT MUTATION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INHERITANCE PATTERNS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VITELLIFORM MACULAR DYSTROPHY;

EID: 80052924653     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7174     Document Type: Article

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