Article
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Apr 1999
Fishman G A, Stone E M, Grover S, Derlacki D J, Haines H L, Hockey R R
Abstract excerpt
OBJECTIVE: To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene. PATIENTS: Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for...
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