pah gene造句

• More than 400 disease-causing mutations have been found in the PAH gene.
• The PAH gene is located on chromosome 12 in the bands 12q22-q24.1.
• In 1983, Woo et al . mapped and cloned that PAH gene confirming theorized allelic heterogeneity.
• Importantly, phenotypic heterogeneity unexplained by allelic heterogeneity in the PAH gene was observed over time and new mutations in tetrahydrobiopterin recycling were characterized such as by Blau et al . in 1993.