The D144E substitution in the VSX1 gene: A non-pathogenic variant or a disease causing mutation?

Ophthalmic Genetics

Volumn 29, Issue 2, 2008, Pages 53-59

  Eran, Pras ^a,b   Almogit, Abu ^c   David, Zadok ^a,b   Wolf, Haike Reznik ^c   Hana, Garzozi ^d,e   Yaniv, Barkana ^a,b   Elon, Pras ^b,c   Isaac, Avni ^a,b  

^a ASSAF HAROFEH MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

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

^d BNAI ZION MEDICAL CENTER   (Israel)

^e TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

Complex inheritance; Keratoconus; VSX1

Indexed keywords

MICROSATELLITE DNA;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; EXON; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; KERATOCONUS; KERATOMETRY; MUTATIONAL ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGREGATION ANALYSIS; VSX1 GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHROMOSOME SEGREGATION; CORNEAL TOPOGRAPHY; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; ISRAEL; JEWS; KERATOCONUS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 45849092577     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802008242     Document Type: Article

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