Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

2007 ◽  
Vol 28 (9) ◽  
pp. 890-896 ◽  
Author(s):  
Efraim H. Rosenberg ◽  
Cristina Martínez Muñoz ◽  
Ofir T. Betsalel ◽  
Silvy J.M. van Dooren ◽  
Matilde Fernandez ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Transporter Gene ◽  
Creatine Transporter ◽  
Diagnostic Application ◽  
Missense Variants

scholarly journals 166 Functional characterization of missense variants in ABCC6, the gene responsible for pseudoxanthoma elasticum

2021 ◽  
Vol 141 (5) ◽  
pp. S29
Author(s):  
J. Huang ◽  
L. Kowal ◽  
J. Singh ◽  
A.E. Snook ◽  
J. Uitto ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Pseudoxanthoma Elasticum ◽  
Missense Variants

scholarly journals Isolation and functional characterization of CsLsi2, a cucumber silicon efflux transporter gene

2018 ◽  
Vol 122 (4) ◽  
pp. 641-648 ◽  
Author(s):  
Hao Sun ◽  
Yaoke Duan ◽  
Xiaocui Qi ◽  
Liyang Zhang ◽  
Heqiang Huo ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Efflux Transporter ◽  
Transporter Gene

Molecular cloning and functional characterization of the apple sucrose transporter gene MdSUT2

2016 ◽  
Vol 109 ◽  
pp. 442-451 ◽  
Author(s):  
Qi-Jun Ma ◽  
Mei-Hong Sun ◽  
Ya-Jing Liu ◽  
Jing Lu ◽  
Da-Gang Hu ◽  
...  
Keyword(s):  
Molecular Cloning ◽  
Functional Characterization ◽  
Sucrose Transporter ◽  
Transporter Gene

scholarly journals Isolation and Functional Characterization of the PfNT1 Nucleoside Transporter Gene fromPlasmodium falciparum

2000 ◽  
Vol 275 (14) ◽  
pp. 10683-10691 ◽  
Author(s):  
Nicola S. Carter ◽  
Choukri Ben Mamoun ◽  
Wei Liu ◽  
Edilene O. Silva ◽  
Scott M. Landfear ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Nucleoside Transporter ◽  
Transporter Gene

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants inGATM

2016 ◽  
Vol 37 (9) ◽  
pp. 926-932 ◽  
Author(s):  
Caro-Lyne DesRoches ◽  
Theodora Bruun ◽  
Peixiang Wang ◽  
Christian R. Marshall ◽  
Saadet Mercimek-Mahmutoglu
Keyword(s):  
Functional Characterization ◽  
Missense Variants

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene

2014 ◽  
Vol 35 (4) ◽  
pp. 462-469 ◽  
Author(s):  
Saadet Mercimek-Mahmutoglu ◽  
Joseph Ndika ◽  
Warsha Kanhai ◽  
Thierry Billette de Villemeur ◽  
David Cheillan ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Missense Variants ◽  
Guanidinoacetate Methyltransferase Deficiency
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