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Full-Text Articles in Medicine and Health Sciences
Molecular Genetic Investigation Of Autosomal Dominant Hemifacial Microsomia, Rebecca Watt
Molecular Genetic Investigation Of Autosomal Dominant Hemifacial Microsomia, Rebecca Watt
Theses: Doctorates and Masters
The overall purpose of this project was to explore the underlying pathogenesis of Hemifacial microsomia (HFM), investigate treatment and management options identify likely candidate genes and screen candidate genes for mutation(s) causing the form of HFM segregating on chromosome 11 in a West Australian family. Hemifacial microsomia is a congenital malformation arising from the derivatives of the first and second branchial arches. It is both clinically and genetically heterogeneous and can occur sporadically or segregate within families in an autosomal fashion. HFM is characterised by significant undergrowth to one side of the face and is a common birth defect with …
Target Selection For Antisense Oligonucleotide Induced Exon Skipping In The Dystrophin Gene, Stephen J. Errington
Target Selection For Antisense Oligonucleotide Induced Exon Skipping In The Dystrophin Gene, Stephen J. Errington
Theses: Doctorates and Masters
Duchene Muscular Dystrophy (DMD), and the milder allelic Becker muscular dystrophy (EMD), are X-linked recessive muscle wasting disorders characterised by mutations in the dystrophin gene. DMD occurs at a frequency of approximately 1 in 3500 male newborns and life expectancy is typically less than 30 years. Due to progressive muscle wasting, affected boys are restricted to a wheelchair by the age of 12 years. The most common cause of death is pneumonia, compounded by cardiac involvement. Mutations that disrupt the dystrophin reading frame, or prevent the synthesis of either terminus, preclude the synthesis of a fully functional dystrophin. The subsequent …