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

C. J. van der Sijs-Bos; C. M. Diepstraten; J. A. Juyn; M. Plaisier; J. C. Giltay; F. J. van Spronsen; G. P. Smit; R. Berger; J. A. Smeitink; B. T. Poll-The; J. K. Ploos van Amstel

doi:https://doi.org/10.1159/000154351

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

C. J. van der Sijs-Bos, C. M. Diepstraten, J. A. Juyn, M. Plaisier, J. C. Giltay, F. J. van Spronsen, G. P. Smit, R. Berger, J. A. Smeitink, B. T. Poll-The, J. K. Ploos van Amstel

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

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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 hyperphenylalaninemia 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

Original language	English
Pages (from-to)	185-190
Journal	Human heredity
Volume	46
Issue number	4
DOIs	https://doi.org/10.1159/000154351
Publication status	Published - 1996

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van der Sijs-Bos, C. J., Diepstraten, C. M., Juyn, J. A., Plaisier, M., Giltay, J. C., van Spronsen, F. J., Smit, G. P., Berger, R., Smeitink, J. A., Poll-The, B. T., & Ploos van Amstel, J. K. (1996). Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis. Human heredity, 46(4), 185-190. https://doi.org/10.1159/000154351

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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 hyperphenylalaninemia 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",

author = "{van der Sijs-Bos}, {C. J.} and Diepstraten, {C. M.} and Juyn, {J. A.} and M. Plaisier and Giltay, {J. C.} and {van Spronsen}, {F. J.} and Smit, {G. P.} and R. Berger and Smeitink, {J. A.} and Poll-The, {B. T.} and {Ploos van Amstel}, {J. K.}",

year = "1996",

doi = "https://doi.org/10.1159/000154351",

language = "English",

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T1 - Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis

AU - van der Sijs-Bos, C. J.

AU - Diepstraten, C. M.

AU - Juyn, J. A.

AU - Plaisier, M.

AU - Giltay, J. C.

AU - van Spronsen, F. J.

AU - Smit, G. P.

AU - Berger, R.

AU - Smeitink, J. A.

AU - Poll-The, B. T.

AU - Ploos van Amstel, J. K.

PY - 1996

Y1 - 1996

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 hyperphenylalaninemia 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

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 hyperphenylalaninemia 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

U2 - https://doi.org/10.1159/000154351

DO - https://doi.org/10.1159/000154351

M3 - Article

C2 - 8807319

SN - 0001-5652

VL - 46

SP - 185

EP - 190

JO - Human heredity

JF - Human heredity

IS - 4

ER -