Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

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

doi:10.1007/s00438-015-1067-x

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

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

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

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Original language	Undefined/Unknown
Pages (from-to)	2163-2171
Journal	Molecular genetics and genomics
Volume	290
Issue number	6
DOIs	https://doi.org/10.1007/s00438-015-1067-x
Publication status	Published - 2015

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Desroches, C. L., Patel, J., Wang, P. X., Minassian, B., Marshall, C. R., Salomons, G., & Mercimek-Mahmutoglu, S. (2015). Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. Molecular genetics and genomics, 290(6), 2163-2171. https://doi.org/10.1007/s00438-015-1067-x

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Desroches, CL, Patel, J, Wang, PX, Minassian, B, Marshall, CR, Salomons, G & Mercimek-Mahmutoglu, S 2015, 'Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene', Molecular genetics and genomics, vol. 290, no. 6, pp. 2163-2171. https://doi.org/10.1007/s00438-015-1067-x

TY - JOUR

T1 - Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

AU - Desroches, C.L.

AU - Patel, J.

AU - Wang, P.X.

AU - Minassian, B.

AU - Marshall, C.R.

AU - Salomons, G.

AU - Mercimek-Mahmutoglu, S.

PY - 2015

Y1 - 2015

U2 - 10.1007/s00438-015-1067-x

DO - 10.1007/s00438-015-1067-x

M3 - Article

C2 - 26003046

SN - 1617-4615

VL - 290

SP - 2163

EP - 2171

JO - Molecular genetics and genomics

JF - Molecular genetics and genomics

IS - 6

ER -