Article
Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).
Transactions of the American Ophthalmological Society - 1 Jul 2014
Wiggs Janey L, Langgurth Anne M, Allen Keri F
Abstract excerpt
PURPOSE: CYP1B1 mutations cause autosomal recessive congenital glaucoma. Disease risk assessment for families with CYP1B1 mutations requires knowledge of the population mutation carrier frequency. The purpose of this study is to determine the CYP1B1 mutation carrier frequency in clinically normal individuals residing in the United States. Because CYP1B1 mutations can exhibit variable expressivity, we hypothesize...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.