Rapid detection of PAH gene mutations in Chinese people

• Main Authors: Xin Zhang (Author), Huan-Xin Chen (Author), Chuan Li (Author), Gui Zhang (Author), Sheng-Yun Liao (Author), Zhuo-chun Peng (Author), Xiao-Ping Lai (Author), Ling-Li Wang (Author)
• Formato: Livro
• Publicado em: BMC, 2019-08-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to a large amount of phenylalanine discharged from the urin...