Open AccessMutations in the CRB1 Gene Cause Leber Congenital Amaurosis
Author(s) -
Andrew Lotery,
Samuel G. Jacobson,
Gerald A. Fishman,
Richard G. Weleber,
Anne B. Fulton,
P Namperumalsamy,
Elise Héon,
Alex V. Levin,
Sandeep Grover,
Justin Rosenow,
Kelly K. Kopp,
Val C. Sheffield,
Edwin M. Stone
Publication year - 2001
Publication title -
archives of ophthalmology
Language(s) - English
Resource type - Journals
eISSN - 1538-3601
pISSN - 0003-9950
DOI - 10.1001/archopht.119.3.415
Subject(s) - proband , biology , genetics , cohort , gene , coding region , genotype , mutation , medicine
To test the hypothesis that mutations in the CRB1 gene cause Leber congenital amaurosis (LCA) and, if so, to describe the ocular phenotype of patients with LCA who harbor CRB1 sequence variations.
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