A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype

Human Genetics

Volumn 124, Issue 6, 2009, Pages 615-623

  Adegbola, Abidemi A ^a,b,c,f   Gonzales, Michael L ^c   Chess, Andrew ^a,b   LaSalle, Janine M ^d   Cox, Gerald F ^b,c,e  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e GENZYME CORPORATION   (United States)

^f LABORATORY FOR MOLECULAR MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARIPIPRAZOLE; CYTOSINE; GUANINE; METHYL CPG BINDING PROTEIN 2; METHYLPHENIDATE; REPRESSOR PROTEIN; VALPROIC ACID;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CELL STRAIN 3T3; CHROMOSOME ANALYSIS; CHROMOSOME XQ; CONTROLLED STUDY; DEVELOPMENTAL COORDINATION DISORDER; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DYSLEXIA; FAMILY HISTORY; FEMALE; FLATFOOT; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROCHROMATIN; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LANGUAGE ABILITY; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; MOUSE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OBESITY; PATERNAL BEHAVIOR; PATHOGENESIS; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BINDING; RETT SYNDROME; SCHOOL CHILD; SPEECH DISORDER; VALGUS KNEE; WILD TYPE;

ADULT; ANIMALS; BALB 3T3 CELLS; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; DNA PRIMERS; FEMALE; GHRELIN; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; MICE; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; RECOMBINANT PROTEINS; RETT SYNDROME; TRANSFECTION;

EID: 58049116929     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0585-6     Document Type: Article

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