Fundus albipunctatus: Novel mutations and phenotypic description of Israeli patients

Molecular Vision

Volumn 18, Issue , 2012, Pages 1712-1718

  Pras, Eran ^a,e   Pras, Elon ^b,e   Reznik Wolf, Haike ^b   Sharon, Dror ^c   Raivech, Svetlana ^a   Barkana, Yaniv ^a,e   Abu Horowitz, Almogit ^b   Ygal, Rotenstreich ^d,e   Banin, Eyal ^c  

^a ASSAF HAROFEH MEDICAL CENTER   (Israel)

^b GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d SHEBA MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RETINOL DEHYDROGENASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; ELECTRORETINOGRAPHY; ETHNICITY; EXON; EYE EXAMINATION; EYE FUNDUS ALBIPUNCTATUS; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NULL ALLELE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOL DEHYDROGENASE GENE; SEQUENCE ANALYSIS; STOP CODON;

ADOLESCENT; ADULT; ALCOHOL OXIDOREDUCTASES; ARABS; BASE SEQUENCE; CHILD; ELECTRORETINOGRAPHY; FEMALE; FUNDUS OCULI; GENOTYPE; HUMANS; ISRAEL; JEWS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOPIA; NIGHT BLINDNESS; PHENOTYPE;

EID: 84864292322     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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