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Full-Text Articles in Medical Sciences
Molecular Investigations In The Role Of The Galk1 Gene In Galactokinase Deficiency, Michael L. Hunter
Molecular Investigations In The Role Of The Galk1 Gene In Galactokinase Deficiency, Michael L. Hunter
Theses : Honours
Galactokinase deficiency is an autosomal-recessive inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. This metabolic disorder is caused by defects in the first enzyme of the Leloir pathway, galactokinase, encoded by the gene GALK1 on chromosome 17q24. Despite the identification of a number of conserved domains in GALK1, understanding of the functional significance of these regions and the molecular basis of the disorder is limited. This is largely due to the rarity of the disease and the fact that the small number of GALK1 mutations identified to-date are …
A Linkage Study Of Autism Using Multipoint Sib-Pair Analysis, Tamara Rogers
A Linkage Study Of Autism Using Multipoint Sib-Pair Analysis, Tamara Rogers
Theses: Doctorates and Masters
Autism is a severe developmental disorder that was first described by Kanner in 1943. It is characterised by four major criteria: marked social deficits, delay in language development, a restricted range of stereotyped repetitive behaviours and onset of the disease within the first three years of life. The last decade of research has provided support for a strong genetic basis in the aetiology of autism. Firstly, a number of genetic conditions, such as fragile X syndrome, chromosome 15 anomalies and tuberous sclerosis, have been associated with autism. Secondly, family studies have demonstrated that the recurrence risk for autism among siblings …