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.
Longo, I
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] - Journal of medical genetics Jan 2003 - 11-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.40.1.11 doi
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
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] - Journal of medical genetics Jan 2003 - 11-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.40.1.11 doi
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