A Colombian family with X-linked juvenile retinoschisis with three affected females: Finding of a frameshift mutation

Ophthalmic Genetics

Volumn 20, Issue 1, 1999, Pages 37-43

  Mendoza Londono, R ^a   Hiriyanna, K T ^b   Bingham, E L ^b   Rodriguez, F ^a   Shastry, B S ^c   Rodriguez, A ^a   Sieving, P A ^b   Tamayo, M L ^a,d  

^a PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^b UNIVERSITY OF MICHIGAN   (United States)

^c OAKLAND UNIVERSITY   (United States)

^d Fundacion Oftalmogica Nacional   (Colombia)

Author keywords

Affected females; Colombian family; Retinoschisis; X linked; XLRS1 mutation

Indexed keywords

DISCOIDIN; DNA; MUTANT PROTEIN;

ARTICLE; COLOMBIA; DISEASE SEVERITY; DNA SEQUENCE; ELECTRORETINOGRAM; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; MALE; OPHTHALMOSCOPY; PRIORITY JOURNAL; RETINOSCHISIS; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; COLOMBIA; EYE DISEASES; EYE PROTEINS; FEMALE; FOLLOW-UP STUDIES; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; RETINAL DISEASES; VITREOUS BODY; X CHROMOSOME;

EID: 0032778927     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.1.37.2299     Document Type: Article

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