FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Nature Genetics

Volumn 30, Issue 4, 2002, Pages 436-440

  Meloni, Ilaria ^a   Muscettola, Maddalena ^a   Raynaud, Martine ^b   Longo, Ilaria ^a   Bruttini, Mirella ^a   Moizard, Marie Pierre ^b   Gomot, Marie ^b   Chelly, Jamel ^c   Des Portes, Vincent ^c   Fryns, Jean Pierre ^d   Ropers, Hans Hilger ^e   Magi, Barbara ^a   Bellan, Cristina ^a   Volpi, Nila ^a   Yntema, Helger G ^f   Lewis, Sarah E ^g   Schaffer, Jean E ^g   Renieri, Alessandra ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b INSERM   (France)

^c Université Paris Descartes   (France)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f Department of Human Genetics ^*  (Netherlands)

^g WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LONG CHAIN FATTY ACID COENZYME A LIGASE;

ARTICLE; CASE REPORT; CHILD; FATTY ACID METABOLISM; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; CEREBELLUM; CHILD; CHILD, PRESCHOOL; COENZYME A LIGASES; EXONS; FAMILY HEALTH; FEMALE; HIPPOCAMPUS; HUMANS; IMMUNOHISTOCHEMISTRY; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE HOMOLOGY, NUCLEIC ACID; X CHROMOSOME;

EID: 18544386723     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng857     Document Type: Article

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