TY  - GEN
AU  - Longo,I
AU  - Frints,S G M
AU  - Fryns,J-P
AU  - Meloni,I
AU  - Pescucci,C
AU  - Ariani,F
AU  - Borghgraef,M
AU  - Raynaud,M
AU  - Marynen,P
AU  - Schwartz,C
AU  - Renieri,A
AU  - Froyen,G
TI  - 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
SN  - 1468-6244
PY  - 2003///0221
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Substitution
KW  - genetics
KW  - Cell Extracts
KW  - chemistry
KW  - Cell Line
KW  - Child
KW  - Chromosomes, Human, X
KW  - Coenzyme A Ligases
KW  - blood
KW  - Female
KW  - Genetic Carrier Screening
KW  - methods
KW  - Genetic Testing
KW  - Humans
KW  - Infant
KW  - Leucine
KW  - Lymphocytes
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - Middle Aged
KW  - Molecular Diagnostic Techniques
KW  - Mutation, Missense
KW  - Pedigree
KW  - Proline
KW  - Repressor Proteins
KW  - Saccharomyces cerevisiae Proteins
KW  - Sex Chromosome Aberrations
KW  - Long-Chain-Fatty-Acid-CoA Ligase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.40.1.11
ER  -