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

B Thöny; F Neuheiser; L Kierat; MO Rolland; P Guibaud; T Schlüter; R Germann; RA Heidenreich; M (Marinus) Duran; Hans Klerk; JE Ayling; N Blau

doi:10.1007/s004390050800

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

B Thöny
, F Neuheiser
, L Kierat
, MO Rolland
, P Guibaud
, T Schlüter
, R Germann
, RA Heidenreich
, M (Marinus) Duran
, Hans Klerk
, JE Ayling
, N Blau

Pediatrics

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

40 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	162-167
Number of pages	6
Journal	Human Genetics
Volume	103
DOIs	https://doi.org/10.1007/s004390050800
Publication status	Published - 1998

Research programs

EMC MM-01-54-01

Access to Document

10.1007/s004390050800

http://hdl.handle.net/1765/55132

Cite this

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

author = "B Th{\"o}ny and F Neuheiser and L Kierat and MO Rolland and P Guibaud and T Schl{\"u}ter and R Germann and RA Heidenreich and Duran, \{M (Marinus)\} and Hans Klerk and JE Ayling and N Blau",

year = "1998",

doi = "10.1007/s004390050800",

language = "Undefined/Unknown",

volume = "103",

pages = "162--167",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science+Business Media",

}

TY - JOUR

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

AU - Thöny, B

AU - Neuheiser, F

AU - Kierat, L

AU - Rolland, MO

AU - Guibaud, P

AU - Schlüter, T

AU - Germann, R

AU - Heidenreich, RA

AU - Duran, M (Marinus)

AU - Klerk, Hans

AU - Ayling, JE

AU - Blau, N

PY - 1998

Y1 - 1998

U2 - 10.1007/s004390050800

DO - 10.1007/s004390050800

M3 - Article

C2 - 9760199

SN - 0340-6717

VL - 103

SP - 162

EP - 167

JO - Human Genetics

JF - Human Genetics

ER -