Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family

M.J.E. Ausems; E. Bakker; R. Berger; M. Duran; O.P. van Diggelen; H.W. de Valk

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family

Translated title of the contribution: Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family

M.J.E. Ausems, E. Bakker, R. Berger, M. Duran, O.P. van Diggelen, H.W. de Valk

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

Translated title of the contribution	Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family
Original language	Undefined/Unknown
Pages (from-to)	236-239
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	68
Publication status	Published - 1997

Keywords

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

Cite this

@article{6e8951998d754f4e9acf9538bf0a6821,

title = "Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family",

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

author = "M.J.E. Ausems and E. Bakker and R. Berger and M. Duran and {van Diggelen}, O.P. and {de Valk}, H.W.",

year = "1997",

language = "Undefined/Unknown",

volume = "68",

pages = "236--239",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley-Liss Inc.",

}

TY - JOUR

T1 - Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family

AU - Ausems, M.J.E.

AU - Bakker, E.

AU - Berger, R.

AU - Duran, M.

AU - van Diggelen, O.P.

AU - de Valk, H.W.

PY - 1997

Y1 - 1997

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0148-7299

VL - 68

SP - 236

EP - 239

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

ER -