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Mutation Screening Of Patients With Leber Congenital Amaurosis Or The Enhanced S-Cone Syndrome Reveals A Lack Of Sequence Variations In The Nrl Gene

Acar, C; Mears, A; Yashar, B; Maheshwary, A; Andreasson, S; Baldi, A; Sieving, P; Iannaccone, A; Musarella, M; Jacobson, S; Swaroop, A (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

Bagiyeva, Sefayet; Marfany, Gemma; Gonzalez-Angulo, Olga; Gonzalez-Duarte, Roser (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 ...