Phenylketonuria in the netherlands: 93% of the mutations are detected by single-strand conformation analysis

R. Berger; J. A.M. Smeitink; B. T. Poll-The; J. K. Ploos van Amstel

doi:10.1159/000154351

Phenylketonuria in the netherlands: 93% of the mutations are detected by single-strand conformation analysis

R. Berger, J. A.M. Smeitink, B. T. Poll-The, J. K. Ploos van Amstel

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

Abstract

Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenyl-alaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel. © 1996 S. Karger AG, Basel.

Original language	English
Pages (from-to)	185-190
Number of pages	6
Journal	Human Heredity
Volume	46
Issue number	4
DOIs	https://doi.org/10.1159/000154351
Publication status	Published - 1 Jan 1996

Keywords

Mutations
Phenylketonuria
Single-strand conformation polymorphism

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title = "Phenylketonuria in the netherlands: 93\% of the mutations are detected by single-strand conformation analysis",

abstract = "Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenyl-alaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93\% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel. {\textcopyright} 1996 S. Karger AG, Basel.",

keywords = "Mutations, Phenylketonuria, Single-strand conformation polymorphism",

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AU - Poll-The, B. T.

AU - Ploos van Amstel, J. K.

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N2 - Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenyl-alaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel. © 1996 S. Karger AG, Basel.

AB - Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenyl-alaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel. © 1996 S. Karger AG, Basel.

KW - Mutations

KW - Phenylketonuria

KW - Single-strand conformation polymorphism

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JO - Human Heredity

JF - Human Heredity

IS - 4

ER -

Phenylketonuria in the netherlands: 93% of the mutations are detected by single-strand conformation analysis

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Keywords

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