AUTS2, EX6-9 DEL
National Institutes of Health
Papers overview
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OBJECTIVE
To delineate the mutation spectrum of phenylalanine hydroxylase (PAH) gene among patients affected with phenylalanine…
Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of…
The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine…
OBJECTIVE
To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU…
BACKGROUND
It has been proven that the lung cancer mortality rate in Xuanwei County, China was among the highest in the country…
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH…
OBJECTIVE
To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia…
OBJECTIVE
To identify the mutation spectrum and the distribution of minihaplotypes (STR/VNTR) of phenylalanine hydroxylase (PAH…
The major challenge for a new thin bottom anti-reflection coating (BARC) materials is how efficiently the light reflection can be…