A Homozygous Splice Mutation in theHSF4Gene Is Associated with an Autosomal Recessive Congenital Cataract
Investigative Ophthalmology & Visual Science2004Vol. 45(8), pp. 2716–2716
Citations Over TimeTop 16% of 2004 papers
Nizar Smaoui, O. Beltaief, Sonia Benhamed, Ridha Mrad, Faouzi Mâazoul, A Ouertani, Habiba Chaâbouni, J. Fielding Hejtmancik
Abstract
This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22.1 and the first description of HSF4 splice variants in the lens showing that HSF4b is the major transcript.
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