Moleculair genetische aspecten van fenylketonurie (PKU)

J C Giltay; A M van Hoef; R de Weger; M Duran; R Berger; F A Beemer

Moleculair genetische aspecten van fenylketonurie (PKU)

Translated title of the contribution: Molecular genetic aspects of phenylketonuria (PKU)

J C Giltay, A M van Hoef, R de Weger, M Duran, R Berger, F A Beemer

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

Abstract

In phenylketonuria (PKU) usually there is a defect in the phenylalanine hydroxylase (PAH) gene. Eight restriction fragment length polymorfisms (RFLP's) in the PAH gene together constitute the haplotype. A considerable number of mutations, responsible for the gene defect, some of which are rather frequent, have been described. Here, we present the first results of investigations on the distribution of haplotypes and mutations in PKU patients in the Netherlands. A short literature review is presented.

Translated title of the contribution	Molecular genetic aspects of phenylketonuria (PKU)
Original language	Dutch
Pages (from-to)	77-80
Number of pages	4
Journal	Tijdschrift voor Kindergeneeskunde
Volume	59
Issue number	3
Publication status	Published - Jun 1991

Keywords

Haplotypes
Humans
Mutagenicity Tests
Mutation
Oligonucleotide Probes
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Cite this

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title = "Moleculair genetische aspecten van fenylketonurie (PKU)",

abstract = "In phenylketonuria (PKU) usually there is a defect in the phenylalanine hydroxylase (PAH) gene. Eight restriction fragment length polymorfisms (RFLP's) in the PAH gene together constitute the haplotype. A considerable number of mutations, responsible for the gene defect, some of which are rather frequent, have been described. Here, we present the first results of investigations on the distribution of haplotypes and mutations in PKU patients in the Netherlands. A short literature review is presented.",

keywords = "Haplotypes, Humans, Mutagenicity Tests, Mutation, Oligonucleotide Probes, Phenylalanine Hydroxylase, Phenylketonurias, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length",

author = "Giltay, {J C} and {van Hoef}, {A M} and {de Weger}, R and M Duran and R Berger and Beemer, {F A}",

year = "1991",

month = jun,

language = "Dutch",

volume = "59",

pages = "77--80",

journal = "Tijdschrift voor Kindergeneeskunde",

issn = "0376-7442",

publisher = "Bohn Stafleu van Loghum",

number = "3",

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TY - JOUR

T1 - Moleculair genetische aspecten van fenylketonurie (PKU)

AU - Giltay, J C

AU - van Hoef, A M

AU - de Weger, R

AU - Duran, M

AU - Berger, R

AU - Beemer, F A

PY - 1991/6

Y1 - 1991/6

N2 - In phenylketonuria (PKU) usually there is a defect in the phenylalanine hydroxylase (PAH) gene. Eight restriction fragment length polymorfisms (RFLP's) in the PAH gene together constitute the haplotype. A considerable number of mutations, responsible for the gene defect, some of which are rather frequent, have been described. Here, we present the first results of investigations on the distribution of haplotypes and mutations in PKU patients in the Netherlands. A short literature review is presented.

AB - In phenylketonuria (PKU) usually there is a defect in the phenylalanine hydroxylase (PAH) gene. Eight restriction fragment length polymorfisms (RFLP's) in the PAH gene together constitute the haplotype. A considerable number of mutations, responsible for the gene defect, some of which are rather frequent, have been described. Here, we present the first results of investigations on the distribution of haplotypes and mutations in PKU patients in the Netherlands. A short literature review is presented.

KW - Haplotypes

KW - Humans

KW - Mutagenicity Tests

KW - Mutation

KW - Oligonucleotide Probes

KW - Phenylalanine Hydroxylase

KW - Phenylketonurias

KW - Polymerase Chain Reaction

KW - Polymorphism, Restriction Fragment Length

M3 - Article

C2 - 1677790

SN - 0376-7442

VL - 59

SP - 77

EP - 80

JO - Tijdschrift voor Kindergeneeskunde

JF - Tijdschrift voor Kindergeneeskunde

IS - 3

ER -

Moleculair genetische aspecten van fenylketonurie (PKU)

Abstract

Keywords

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