Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

DesRoches, Caro-Lyne

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. [electronic resource] - Human mutation 09 2016 - 926-32 p. digital

Publication Type: Journal Article

1098-1004

10.1002/humu.23018 doi


Adolescent
Adult
Amidinotransferases--deficiency
Amino Acid Metabolism, Inborn Errors--genetics
Child
Child, Preschool
Cloning, Molecular
Developmental Disabilities--genetics
Female
HeLa Cells
Humans
Infant
Intellectual Disability--genetics
Male
Mutation, Missense
Speech Disorders--genetics
Young Adult