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AUTS2, EX6-9 DEL

National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
OBJECTIVE To delineate the mutation spectrum of phenylalanine hydroxylase (PAH) gene among patients affected with phenylalanine… Expand
2015
2015
Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of… Expand
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2015
2015
The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine… Expand
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2015
2015
OBJECTIVE To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU… Expand
2015
2015
BACKGROUND It has been proven that the lung cancer mortality rate in Xuanwei County, China was among the highest in the country… Expand
2014
2014
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH… Expand
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2013
2013
OBJECTIVE To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia… Expand
2008
2008
  • Y. Qu, F. Song, +4 authors 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… Expand
2000
2000
The major challenge for a new thin bottom anti-reflection coating (BARC) materials is how efficiently the light reflection can be… Expand
Highly Cited
1992
Highly Cited
1992
We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6… Expand