Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

Molecular Vision

Volumn 18, Issue , 2012, Pages 2411-2419

  Siemiatkowska, Anna M ^a   Astuti, Galuh D N ^a,c   Arimadyo, Kentar ^c   den Hollander, Anneke I ^a   Faradz, Sultana M H ^c   Cremers, Frans P M ^a,b   Collin, Rob W J ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c DIPONEGORO UNIVERSITY   (Indonesia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CODON; COLOR VISION; ETHNIC GROUP; EXON; FEMALE; GENE; GENE FREQUENCY; HOMOZYGOSITY; HUMAN; INDONESIAN; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINITIS PIGMENTOSA; RP1 GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INDONESIA; MALE; MIDDLE AGED; PEDIGREE; RETINA; RETINITIS PIGMENTOSA; VISUAL ACUITY;

EID: 84867515658     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

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