Mutations in the pterin-4alfa-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

B. Thöny; F. Neuheiser; L. Kierat; M.O. Rolland; P. Guibaud; T. Schlöter; R. Germann; R.A. Heidenreich; M. Duran; J.B.C. de Klerk; J.E. Ayling; N. Blau

Mutations in the pterin-4alfa-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

Translated title of the contribution: Mutations in the pterin-4alfa-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

B. Thöny, F. Neuheiser, L. Kierat, M.O. Rolland, P. Guibaud, T. Schlöter, R. Germann, R.A. Heidenreich, M. Duran, J.B.C. de Klerk, J.E. Ayling, N. Blau

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

Translated title of the contribution	Mutations in the pterin-4alfa-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
Original language	Undefined/Unknown
Pages (from-to)	162-167
Number of pages	6
Journal	Human Genetics
Volume	103
Publication status	Published - 1998

Keywords

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

Cite this

@article{3021ee30640c4fba887d216b3fdc689d,

title = "Mutations in the pterin-4alfa-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia",

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

author = "B. Th{\"o}ny and F. Neuheiser and L. Kierat and M.O. Rolland and P. Guibaud and T. Schl{\"o}ter and R. Germann and R.A. Heidenreich and M. Duran and {de Klerk}, J.B.C. and J.E. Ayling and N. Blau",

year = "1998",

language = "Undefined/Unknown",

volume = "103",

pages = "162--167",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer-Verlag",

}

TY - JOUR

T1 - Mutations in the pterin-4alfa-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

AU - Thöny, B.

AU - Neuheiser, F.

AU - Kierat, L.

AU - Rolland, M.O.

AU - Guibaud, P.

AU - Schlöter, T.

AU - Germann, R.

AU - Heidenreich, R.A.

AU - Duran, M.

AU - de Klerk, J.B.C.

AU - Ayling, J.E.

AU - Blau, N.

PY - 1998

Y1 - 1998

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0340-6717

VL - 103

SP - 162

EP - 167

JO - Human Genetics

JF - Human Genetics

ER -