In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

Cezary Zekanowski; Belen Perez; Lourdes R. Desviat; Wojciech Wiszniewski; Magdalena Ugarte

doi:10.18388/abp.2000_4016

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

Cezary Zekanowski, Belen Perez, Lourdes R. Desviat, Wojciech Wiszniewski, Magdalena Ugarte

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

Original language	English (US)
Pages (from-to)	365-369
Number of pages	5
Journal	Acta Biochimica Polonica
Volume	47
Issue number	2
DOIs	https://doi.org/10.18388/abp.2000_4016
State	Published - 2000
Externally published	Yes

Keywords

Expression analysis
Hyperphenylalaninemia
Mutation
Phenylalanine hydroxylase

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

Access to Document

10.18388/abp.2000_4016

Cite this

@article{5d198af406914906bc0cf07dad97fc4c,

title = "In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene",

abstract = "Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.",

keywords = "Expression analysis, Hyperphenylalaninemia, Mutation, Phenylalanine hydroxylase",

author = "Cezary Zekanowski and Belen Perez and Desviat, {Lourdes R.} and Wojciech Wiszniewski and Magdalena Ugarte",

year = "2000",

doi = "10.18388/abp.2000_4016",

language = "English (US)",

volume = "47",

pages = "365--369",

journal = "Acta Biochimica Polonica",

issn = "0001-527X",

publisher = "Acta Biochimica Polonica",

number = "2",

}

TY - JOUR

T1 - In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

AU - Zekanowski, Cezary

AU - Perez, Belen

AU - Desviat, Lourdes R.

AU - Wiszniewski, Wojciech

AU - Ugarte, Magdalena

PY - 2000

Y1 - 2000

N2 - Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

AB - Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

KW - Expression analysis

KW - Hyperphenylalaninemia

KW - Mutation

KW - Phenylalanine hydroxylase

UR - http://www.scopus.com/inward/record.url?scp=0034575894&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034575894&partnerID=8YFLogxK

U2 - 10.18388/abp.2000_4016

DO - 10.18388/abp.2000_4016

M3 - Article

C2 - 11051201

AN - SCOPUS:0034575894

SN - 0001-527X

VL - 47

SP - 365

EP - 369

JO - Acta Biochimica Polonica

JF - Acta Biochimica Polonica

IS - 2

ER -

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this