Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. [electronic resource]
Producer: 20171215Description: 926-32 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Journal Article
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