Now showing items 1-2 of 2
Mutation Screening Of Patients With Leber Congenital Amaurosis Or The Enhanced S-Cone Syndrome Reveals A Lack Of Sequence Variations In The Nrl Gene
(Molecular Vision, 2003)
Purpose: To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). Methods: Genomic DNA was isolated from blood ...
Mutational Screening Of Cyp1B1 In Turkish Pcg Families And Functional Analyses Of Newly Detected Mutations
(Molecular Vision, 2007)
Purpose: To investigate the genetic basis of primary congenital glaucoma (PCG) in a collection of Turkish patients and to assess the pathogenicity of two novel alleles Methods: Intragenic single nucleotide polymorphisms ...