Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

C.L. Desroches; J. Patel; P.X. Wang; B. Minassian; G. Salomons; C.R. Marshall; S. Mercimek-Mahmutoglu

doi:https://doi.org/10.1016/j.gene.2015.04.011

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

C.L. Desroches, J. Patel, P.X. Wang, B. Minassian, G. Salomons, C.R. Marshall, S. Mercimek-Mahmutoglu

Laboratory Medicine (VUmc)

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

21 Citations (Scopus)

Original language	English
Pages (from-to)	187-191
Journal	Gene
Volume	565
Issue number	2
DOIs	https://doi.org/10.1016/j.gene.2015.04.011
Publication status	Published - 2015

Access to Document

https://doi.org/10.1016/j.gene.2015.04.011

Cite this

@article{fca22c0e00b1475eb5fa19c133bd96bc,

title = "Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene",

author = "C.L. Desroches and J. Patel and P.X. Wang and B. Minassian and G. Salomons and C.R. Marshall and S. Mercimek-Mahmutoglu",

year = "2015",

doi = "https://doi.org/10.1016/j.gene.2015.04.011",

language = "English",

volume = "565",

pages = "187--191",

journal = "Gene",

issn = "0378-1119",

publisher = "Elsevier",

number = "2",

}

TY - JOUR

T1 - Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

AU - Desroches, C.L.

AU - Patel, J.

AU - Wang, P.X.

AU - Minassian, B.

AU - Salomons, G.

AU - Marshall, C.R.

AU - Mercimek-Mahmutoglu, S.

PY - 2015

Y1 - 2015

U2 - https://doi.org/10.1016/j.gene.2015.04.011

DO - https://doi.org/10.1016/j.gene.2015.04.011

M3 - Article

C2 - 25861866

SN - 0378-1119

VL - 565

SP - 187

EP - 191

JO - Gene

JF - Gene

IS - 2

ER -