Kameron Kishaba
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View article: Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent Open
Purpose: To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. Methods: A complete ophthalmic evaluation including measurement of visual …
View article: A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses Open
Targeted analysis of clinically suspected genes in 225 subjects resulted in a positive molecular diagnosis in 26% of patients with dominant IRD and 59% of patients with recessive IRD. Novel damaging mutations were identified in four genes.…
View article: Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family.
Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family. Open
View article: Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family.
Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family. Open