AUTS2, EX6-9 DEL

 
National Institutes of Health

Papers overview

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2016
2016
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
OBJECTIVE To delineate the mutation spectrum of phenylalanine hydroxylase (PAH) gene among patients affected with phenylalanine… (More)
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2015
2015
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing
Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of… (More)
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2015
2015
[Molecular epidemiology study in Xuanwei: the relationship among 
coal type, genotype and lung cancer risk].
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
[Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
OBJECTIVE To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU… (More)
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2015
2015
Prenatal diagnosis of Chinese families with phenylketonuria.
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
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
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
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].
OBJECTIVE To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia… (More)
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2008
2008
[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].
OBJECTIVE To identify the mutation spectrum and the distribution of minihaplotypes (STR/VNTR) of phenylalanine hydroxylase (PAH… (More)
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2000
2000
New bottom antireflection coating approach for KrF lithography at sub-150-nm design rule
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
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that…
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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