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… (More)
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2015
2015
Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of… (More)
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2015
2015
BACKGROUND It has been proven that the lung cancer mortality rate in Xuanwei County, China was among the highest in the country… (More)
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2015
2015
OBJECTIVE To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU… (More)
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2015
2015
The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine… (More)
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2014
2014
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH… (More)
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2013
2013
OBJECTIVE To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia… (More)
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2008
2008
OBJECTIVE To identify the mutation spectrum and the distribution of minihaplotypes (STR/VNTR) of phenylalanine hydroxylase (PAH… (More)
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2000
2000
The major challenge for a new thin bottom anti-reflection coating (BARC) materials is how efficiently the light reflection can be… (More)
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1992
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… (More)
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