A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. [electronic resource]
Producer: 20030221Description: 11-7 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Amino Acid Substitution -- genetics
- Cell Extracts -- chemistry
- Cell Line
- Child
- Chromosomes, Human, X -- genetics
- Coenzyme A Ligases -- blood
- Female
- Genetic Carrier Screening -- methods
- Genetic Testing -- methods
- Humans
- Infant
- Leucine -- genetics
- Lymphocytes -- chemistry
- Male
- X-Linked Intellectual Disability -- blood
- Middle Aged
- Molecular Diagnostic Techniques -- methods
- Mutation, Missense -- genetics
- Pedigree
- Proline -- genetics
- Repressor Proteins
- Saccharomyces cerevisiae Proteins
- Sex Chromosome Aberrations
- Long-Chain-Fatty-Acid-CoA Ligase
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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