Nicholas James Beauchamp
Affiliation: University of Sheffield
- A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohortN J Beauchamp
Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
Thromb Haemost 79:1086-91. 1998..Six of the fourteen relatives with the mutation experienced at least one venous thrombotic event strongly supporting the association of the mutation with venous thrombosis...
- The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general populationNicholas J Beauchamp
Division of Genomic Medicine, University of Sheffield, Royal Hallamshire Hospital, Sheffield, UK
Br J Haematol 125:647-54. 2004..This genetic information enabled us to refine our estimate of the prevalence of heritable PS deficiency in the Scottish population to between 0.16% and 0.21%, predominantly resulting from the presence of the Heerlen allele...
- Glycogen storage disease type IX: High variability in clinical phenotypeNicholas James Beauchamp
Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children s NHS Foundation Trust, Western Bank, Sheffield S10 2TH, and Department of Paediatrics, Addenbrook s Hospital, Cambridge, UK
Mol Genet Metab 92:88-99. 2007..Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies...
- High frequency of missense mutations in glycogen storage disease type VIN J Beauchamp
Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children s NHS Trust, Western Bank, Sheffield, S10 2TH, UK
J Inherit Metab Dis 30:722-34. 2007..We conclude that deficiency of liver glycogen phosphorylase is predominantly the result of missense mutations affecting enzyme activity. There are no common mutations and the severity of clinical symptoms varies significantly...