Pages that link to "Q40793105"

The following pages link to Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel (Q40793105):

Displaying 8 items.

• The Druze: a population genetic refugium of the Near East (Q21144319) (← links)
• Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population (Q24533417) (← links)
• Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency (Q34320251) (← links)
• Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease (Q43708605) (← links)
• Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. (Q44559260) (← links)
• Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. (Q44741396) (← links)
• Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. (Q55053008) (← links)
• Fourteen new mutations of , and genes associated with maple syrup urine disease (MSUD) in Malaysian population (Q58743388) (← links)