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Novel mutation found in creatine transporter gene (SLC6A8) in a patient with intellectual disability

Authors :
A. Rubio Alaejos
G. Pérez Esteban
L. Valiña Amado
M.A. Ballesteros Vizoso
Josep Miquel Bauça
P. Argente Del Castillo
J. Robles Bauzá
Source :
Clinica Chimica Acta. 493:S246
Publication Year :
2019
Publisher :
Elsevier BV, 2019.

Subjects

Subjects :
business.industry
Biochemistry (medical)
Clinical Biochemistry
Intellectual disability
Medicine
General Medicine
business
medicine.disease
Bioinformatics
Biochemistry
Novel mutation
Creatine transporter
Gene

Details

ISSN :
00098981
Volume :
493
Database :
OpenAIRE
Journal :
Clinica Chimica Acta
Accession number :
edsair.doi...........7ef17ff389fa7f5348cfc5817f86aa3c
Full Text :
https://doi.org/10.1016/j.cca.2019.03.509
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