Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Nature Genetics

Volumn 30, Issue 4, 2002, Pages 441-445

  Strømme, Petter ^a   Mangelsdorf, Marie E ^a,b   Shaw, Marie A ^a   Lower, Karen M ^a,b   Lewis, Suzanne M E ^c   Bruyere, Helene ^c   Lütcherath, Viggo ^d   Gedeon, Ági K ^a,b   Wallace, Robyn H ^a   Scheffer, Ingrid E ^e   Turner, Gillian ^f   Partington, Michael ^f   Frints, Suzanna G M ^g,h   Fryns, Jean Pierre ^h   Sutherland, Grant R ^a,b   Mulley, John C ^a,b   Gécz, Jozef ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d STAVANGER UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f UNIVERSITY OF NEWCASTLE   (Australia)

^g DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

ARTICLE; CASE REPORT; CHILD; EPILEPSY; FAMILY STUDY; GENE MUTATION; GENOME; HUMAN; INFANTILE SPASM; MALE; MENTAL DEFICIENCY; MYOCLONUS SEIZURE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; ANIMALS; DROSOPHILA PROTEINS; EPILEPSY; FAMILY HEALTH; FEMALE; HAPLOTYPES; HUMANS; MALE; MENTAL RETARDATION; MICE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; POLY A; SEQUENCE HOMOLOGY, AMINO ACID; TISSUE DISTRIBUTION; TRANSCRIPTION, GENETIC; X CHROMOSOME;

EID: 0001665187     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng862     Document Type: Article

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