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 Science and Business Media Deutschland GmbH",

}

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 -