A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

C.H. Casale; N. Casals; J. Pie; N. Zapater; C. Perez-Cerda; B. Merinero; M. Martinez-Pardo; J.J. Garcia-Peña; J.M. Garcia-Gonzalez; R. Lama; B.T. Poll-The; J.A.M. Smeitink; R.J.A. Wanders; M. Ugarte; F.G. Hegardt

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

C.H. Casale
, N. Casals
, J. Pie
, N. Zapater
, C. Perez-Cerda
, B. Merinero
, M. Martinez-Pardo
, J.J. Garcia-Peña
, J.M. Garcia-Gonzalez
, R. Lama
, B.T. Poll-The
, J.A.M. Smeitink
, R.J.A. Wanders
, M. Ugarte
, F.G. Hegardt

Utrecht University

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

Original language	Undefined/Unknown
Pages (from-to)	129-137
Number of pages	9
Journal	Archives of Biochemistry and Biophysics
Volume	349
Issue number	1
Publication status	Published - 1998

Keywords

Econometric and Statistical Methods: General
Genetics
Geneeskunde(GENK)
Algemeen onderzoek

Cite this

Casale, C. H., Casals, N., Pie, J., Zapater, N., Perez-Cerda, C., Merinero, B., Martinez-Pardo, M., Garcia-Peña, J. J., Garcia-Gonzalez, J. M., Lama, R., Poll-The, B. T., Smeitink, J. A. M., Wanders, R. J. A., Ugarte, M., & Hegardt, F. G. (1998). A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients. Archives of Biochemistry and Biophysics, 349(1), 129-137.

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title = "A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients",

keywords = "Econometric and Statistical Methods: General, Genetics, Geneeskunde(GENK), Algemeen onderzoek",

author = "C.H. Casale and N. Casals and J. Pie and N. Zapater and C. Perez-Cerda and B. Merinero and M. Martinez-Pardo and J.J. Garcia-Pe{\~n}a and J.M. Garcia-Gonzalez and R. Lama and B.T. Poll-The and J.A.M. Smeitink and R.J.A. Wanders and M. Ugarte and F.G. Hegardt",

year = "1998",

language = "Undefined/Unknown",

volume = "349",

pages = "129--137",

journal = "Archives of Biochemistry and Biophysics",

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Casale, CH, Casals, N, Pie, J, Zapater, N, Perez-Cerda, C, Merinero, B, Martinez-Pardo, M, Garcia-Peña, JJ, Garcia-Gonzalez, JM, Lama, R, Poll-The, BT, Smeitink, JAM, Wanders, RJA, Ugarte, M & Hegardt, FG 1998, 'A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients', Archives of Biochemistry and Biophysics, vol. 349, no. 1, pp. 129-137.

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients. / Casale, C.H.; Casals, N.; Pie, J. et al.
In: Archives of Biochemistry and Biophysics, Vol. 349, No. 1, 1998, p. 129-137.

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

TY - JOUR

T1 - A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme a lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

AU - Casale, C.H.

AU - Casals, N.

AU - Pie, J.

AU - Zapater, N.

AU - Perez-Cerda, C.

AU - Merinero, B.

AU - Martinez-Pardo, M.

AU - Garcia-Peña, J.J.

AU - Garcia-Gonzalez, J.M.

AU - Lama, R.

AU - Poll-The, B.T.

AU - Smeitink, J.A.M.

AU - Wanders, R.J.A.

AU - Ugarte, M.

AU - Hegardt, F.G.

PY - 1998

Y1 - 1998

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0003-9861

VL - 349

SP - 129

EP - 137

JO - Archives of Biochemistry and Biophysics

JF - Archives of Biochemistry and Biophysics

IS - 1

ER -