A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa

Ophthalmic Genetics

Volumn 32, Issue 1, 2011, Pages 57-63

  Kartasasmita, Arief ^a,b   Fujiki, Keiko ^b   Iskandar, Erwin ^a   Sovani, Iwan ^a   Fujimaki, Takuro ^b   Murakami, Akira ^b  

^a PADJADJARAN UNIVERSITY   (Indonesia)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

autosomal recessive; nonsense mutation; retinitis pigmentosa; Rhodopsin

Indexed keywords

RHODOPSIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; EXON; EYE EXAMINATION; FAMILY; FEMALE; FOUNDER EFFECT; GENE SEQUENCE; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDONESIA; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HAPLOTYPES; HUMANS; INDONESIA; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RHODOPSIN;

EID: 79952140691     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.535892     Document Type: Article

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