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22054 Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme
Chavarria-Soley G; Sticht H; Aklillu E; Ingelman-Sundberg M; Pasutto F; Reis A; Rautenstrauss B
Human Mutation 2008; 29: 1147-1153

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