MUTATIONS CAUSING DOPA-RESPONSIVE DYSTONIA: FUNCTIONAL EVALUATION IN YEAST

Pubblicazioni Scientifiche

• 1999 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Complementation of the fol2 deletion in Saccharomyces cerevisiae by human and Escherichia coli genes encoding GTP cyclohydrolase I

• 2004 JOURNAL OF INHERITED METABOLIC DISEASE

  GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations