Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p

Canadian Journal of Ophthalmology

Volumn 36, Issue 5, 2001, Pages 252-259

  Damji, Karim F ^a,b,d   Sohocki, Melanie M ^e   Khan, Ravesh ^d   Gupta, Sanjoy K ^a,b   Rahim, Musa ^d   Loyer, Magali ^f   Hussein, Naushad ^g   Ladak, Shenif S ^h   Jamal, Alnoor ⁱ   Bulman, Dennis ^a,c   Koenekoop, Robert K ^f  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c UNIVERSITY OF OTTAWA EYE INSTITUTE   (Canada)

^d AGA KHAN UNIVERSITY HOSPITAL   (Pakistan)

^e UNIVERSITY OF TEXAS   (United States)

^f RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^g MCGILL UNIVERSITY   (Canada)

^h MCMASTER UNIVERSITY   (Canada)

ⁱ DARTMOUTH MEDICAL SCHOOL   (United States)

Author keywords

Leber's congenital amaurosis; Molecular genetics; Retinitis pigmentosa

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 17P; CLINICAL ARTICLE; CONGENITAL BLINDNESS; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; INBREEDING; KERATOCONUS; LEBER CONGENITAL AMAUROSIS; MALE; MOLECULAR GENETICS; NONSENSE MUTATION; OPHTHALMOSCOPY; PAKISTAN; PEDIGREE; PHENOTYPE; RETINA CONE; RETINA DEVELOPMENT; RETINA DYSTROPHY; RETINA MACULOPATHY; RETINOPATHY; STOP CODON; VISUAL IMPAIRMENT;

EID: 0035722135     PISSN: 00084182     EISSN: 17153360     Source Type: Journal    
DOI: 10.1016/S0008-4182(01)80018-1     Document Type: Article

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