The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. [electronic resource]
Producer: 20140408Description: S5-11 p. digitalISSN:- 1573-2665
- Adolescent
- Adult
- Biomarkers -- urine
- Brain Diseases, Metabolic, Inborn -- diagnosis
- Child
- Creatine -- deficiency
- Creatinine -- urine
- DNA Mutational Analysis
- Estonia -- epidemiology
- Female
- Genetic Predisposition to Disease
- Genetic Testing -- methods
- Heredity
- Heterozygote
- Humans
- Intelligence -- genetics
- Male
- X-Linked Intellectual Disability -- diagnosis
- Middle Aged
- Mutation, Missense
- Nerve Tissue Proteins -- deficiency
- Pedigree
- Persons with Intellectual Disabilities
- Phenotype
- Plasma Membrane Neurotransmitter Transport Proteins -- deficiency
- Predictive Value of Tests
- Prevalence
- Severity of Illness Index
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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