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AUTS2, EX6-9 DEL

National Institutes of Health

Papers overview

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2016
2016
OBJECTIVE To delineate the mutation spectrum of phenylalanine hydroxylase (PAH) gene among patients affected with phenylalanine… 
2015
2015
Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of… 
2015
2015
The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine… 
2015
2015
OBJECTIVE To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU… 
2015
2015
BACKGROUND It has been proven that the lung cancer mortality rate in Xuanwei County, China was among the highest in the country… 
2014
2014
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH… 
2013
2013
OBJECTIVE To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia… 
2008
2008
  • Y. QuF. Song Lei Qiu
  • Zhonghua er ke za zhi = Chinese journal of…
  • 2008
  • Corpus ID: 34201730
OBJECTIVE To identify the mutation spectrum and the distribution of minihaplotypes (STR/VNTR) of phenylalanine hydroxylase (PAH… 
2000
2000
The major challenge for a new thin bottom anti-reflection coating (BARC) materials is how efficiently the light reflection can be…