A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy

Annals of Neurology

Volumn 47, Issue 1, 2000, Pages 117-121

  Guerrini, Renzo ^a,c   Shanahan, Jennifer L ^d   Carrozzo, Romeo ^b   Bonanni, Paolo ^a   Higgs, Douglas R ^e   Gibbons, Richard J ^d  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; DAILY LIFE ACTIVITY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; EPILEPSY; GENE EXPRESSION; HUMAN; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; DNA HELICASES; DNA-BINDING PROTEINS; EPILEPSY; FEMALE; HUMANS; INTELLIGENCE; MALE; MENTAL RETARDATION; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; NUCLEAR PROTEINS; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 0033984298     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200001)47:1<117::AID-ANA20>3.0.CO;2-A     Document Type: Article

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