Associated Papers
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Zavadáková P et al.
Human Mutation, 2005
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
Zavadakova P et al.
Journal of Inherited Metabolic Disease, 2002
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Wilson A et al.
Human Molecular Genetics, 1999
Select a paper to view details