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Full-Text Articles in Genetics and Genomics
Title, Fergus Ryan, D Devaney, Caroline Joyce, A Nestorowicz, M Permutt, Benjamin Glaser, Paul Thornton, David E. Barton
Title, Fergus Ryan, D Devaney, Caroline Joyce, A Nestorowicz, M Permutt, Benjamin Glaser, Paul Thornton, David E. Barton
Articles
Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.
Molecular Analysis Of The Factor V-Leiden Mutation In A Cardiac Transplant Patient Population, Caroline Maher
Molecular Analysis Of The Factor V-Leiden Mutation In A Cardiac Transplant Patient Population, Caroline Maher
Theses
Venous thrombosis is a serious health problem affecting 1 in 1000 individuals annually. Until recently the pathogenic factors underlying thrombosis were associated with genetic defects in protein C, protein S and antithrombin III. However these were recognised in fewer than 5-10% of thrombotic patients. A breakthrough was made with the discovery of activated protein C resistance (APCr) which is associated in 90% of cases v/herein a G-->A transition in the factor V gene results in an abnormal molecule, Factor V Leiden. APCr is a major risk factor for thrombosis being present in 20-60% of thrombotic patients. Recently a G-^A …