Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations

2018 ◽  
Vol 125 (3) ◽  
pp. 266-275 ◽  
Author(s):  
Ana Rivera-Barahona ◽  
Rosa Navarrete ◽  
Raquel García-Rodríguez ◽  
Eva Richard ◽  
Magdalena Ugarte ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Propionic Acidemia ◽  
Novel Mutations ◽  
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 Functional characterization of novel mutations in the human cytochrome b gene

2001 ◽  
Vol 9 (7) ◽  
pp. 510-518 ◽  
Author(s):  
Frédéric Legros ◽  
Evi Chatzoglou ◽  
Paule Frachon ◽  
Hélène Ogier de Baulny ◽  
Pascal Laforêt ◽  
...  
Keyword(s):  
Cytochrome B ◽  
Functional Characterization ◽  
Cytochrome B Gene ◽  
Novel Mutations ◽  
Human Cytochrome

scholarly journals Identification and Functional Characterization of Novel Mutations in the Melanocortin-4 Receptor

Obesity Facts ◽  
2010 ◽  
Vol 3 (5) ◽  
pp. 304-311 ◽  
Author(s):  
Sigri Beckers ◽  
Doreen Zegers ◽  
Fenna de Freitas ◽  
Armand V. Peeters ◽  
Stijn L. Verhulst ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Novel Mutations ◽  
Melanocortin 4 Receptor

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

Functional Characterization of Novel Mutations Affecting Survivin (BIRC5)-Mediated Therapy Resistance in Head and Neck Cancer Patients

2012 ◽  
Vol 34 (2) ◽  
pp. 395-404 ◽  
Author(s):  
Shirley K. Knauer ◽  
Britta Unruhe ◽  
Sarah Karczewski ◽  
Rouven Hecht ◽  
Verena Fetz ◽  
...  
Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Cancer Patients ◽  
Neck Cancer ◽  
Functional Characterization ◽  
Therapy Resistance ◽  
Novel Mutations

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
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