A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 12, 2007, Pages 5431-5438

  Auslender, Noa ^a   Sharon, Dror ^b   Abbasi, Anan H ^a   Garzozi, Hanna J ^c   Banin, Eyal ^b   Ben Yosef, Tamar ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CERKL GENE; CLINICAL ARTICLE; COLOR VISION TEST; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROOCULOGRAPHY; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; JEW; MALE; OPHTHALMOSCOPY; PERIMETRY; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; RETINA MACULA LUTEA; RETINA ROD; RNA SPLICING; VISUAL ACUITY; ELECTRORETINOGRAPHY; ETHNOLOGY; FOUNDER EFFECT; GENETICS; ISRAEL; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; YEMEN;

CERAMIDE KINASE; PHOSPHOTRANSFERASE;

ADOLESCENT; ADULT; COLOR PERCEPTION TESTS; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HAPLOTYPES; HUMANS; ISRAEL; JEWS; MACULA LUTEA; MALE; MUTATION; PEDIGREE; PERIMETRY; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; YEMEN;

EID: 38549111184     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.07-0736     Document Type: Article

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