Harry Mountain

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Two pathogenic mitochondrial DNA mutations, a T-to-G substitution (8993T>G) and a T-to-C substitution (8993T>C), at nucleotide 8993 have been reported. We describe 13 pedigrees with mitochondrial DNA mutations at nucleotide 8993; 10 pedigrees with the 8993T>G mutation and three with the 8993T>C mutation. Prenatal diagnosis of the nucleotide 8993 mutations(More)
Blood, saliva, semen and vaginal secretions are the main human body fluids encountered at crime scenes. Currently presumptive tests are routinely utilised to indicate the presence of body fluids, although these are often subject to false positives and limited to particular body fluids. Over the last decade more sensitive and specific body fluid(More)
Medium Chain Acyl CoA Dehydrogenase (MCAD) deficiency is the most common genetic disorder of fatty acid metabolism and has been reported as a cause of sudden death in infants. We investigated the incidence of a rare MCAD mutation (G583A) in a large population of SIDS patients. A method utilising PCR mediated site directed mutagenesis and restriction enzyme(More)
Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence because of consanguineous marriage. Novel mutations are still getting detected by using DNA sequencing for(More)
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