Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is a well-recognized problem. However, molecular basis underlying mental retardation and its severity remain poorly understood and still a matt...

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Veröffentlicht in:	Human molecular genetics 2009-10, Vol.18 (20), p.3779-3794
Hauptverfasser:	Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Adult and adolescent clinical studies Base Sequence Biochemistry, Molecular Biology Biological and medical sciences Child Cognition Cohort Studies Dystrophin - genetics Dystrophin - metabolism Female Fundamental and applied biological sciences. Psychology Gene Expression Genetics Genetics of eukaryotes. Biological and molecular evolution Humans Intellectual deficiency Intellectual Disability - genetics Intellectual Disability - metabolism Intellectual Disability - psychology Intelligence Tests Life Sciences Male Medical sciences Molecular and cellular biology Molecular Sequence Data Muscular Dystrophy, Duchenne - complications Mutation Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Severity of Illness Index Young Adult
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