Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

FM Vaz; Jasper Scholte; J Ruiter; Lidia Odijk; R Rodrigues Pereira; S Schweitzer; Hans Klerk; HR Waterham; RJA Wanders

doi:10.1007/s004390051079

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

FM Vaz, Jasper Scholte, J Ruiter, Lidia Odijk, R Rodrigues Pereira, S Schweitzer, Hans Klerk, HR Waterham, RJA Wanders

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

61 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	157-161
Number of pages	5
Journal	Human Genetics
Volume	105
DOIs	https://doi.org/10.1007/s004390051079
Publication status	Published - 1999

Research programs

EMC 05-04-21-02-00

Access to Document

10.1007/s004390051079

http://hdl.handle.net/1765/56462

Cite this

@article{c549134f54cf48bca331f2c40e00cad7,

title = "Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency",

author = "FM Vaz and Jasper Scholte and J Ruiter and Lidia Odijk and \{Rodrigues Pereira\}, R and S Schweitzer and Hans Klerk and HR Waterham and RJA Wanders",

year = "1999",

doi = "10.1007/s004390051079",

language = "Undefined/Unknown",

volume = "105",

pages = "157--161",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science+Business Media",

}

TY - JOUR

T1 - Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

AU - Vaz, FM

AU - Scholte, Jasper

AU - Ruiter, J

AU - Odijk, Lidia

AU - Rodrigues Pereira, R

AU - Schweitzer, S

AU - Klerk, Hans

AU - Waterham, HR

AU - Wanders, RJA

PY - 1999

Y1 - 1999

U2 - 10.1007/s004390051079

DO - 10.1007/s004390051079

M3 - Article

SN - 0340-6717

VL - 105

SP - 157

EP - 161

JO - Human Genetics

JF - Human Genetics

ER -