Browsing by Author "Esterhuizen, Alina"

Now showing items 1-3 of 3

Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies

Author: Esterhuizen, Alina Date: 2010 Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date. Large exonic deletions or duplications are found ... Read more
Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing

Author: Ngongang Tekendo, Cedrik Date: 2017 Introduction: Noonan Syndrome (NS) is an autosomal dominant multisystem disorder, characterised by short stature, distinctive facial dysmorphism, cardiovascular abnormalities and developmental delay. Its estimated incidence is 1:1000 to 1:2500 ... Read more
Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy

Author: Tyers, Lynn Date: 2016 Duchenne muscular dystrophy (DMD) is the most common and severe of the dystrophies, with an incidence of 1 in 3500 live male births, worldwide. Becker Muscular dystrophy (BMD) has a lower incidence of approximately 1 in 17500 births, a milder ... Read more

Now showing items 1-3 of 3

Browse