Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities

Brain Research

Volumn 1380, Issue , 2011, Pages 98-105

  Kolevzon, Alexander ^a   Cai, Guiqing ^a   Soorya, Latha ^a   Takahashi, Nagahide ^a   Grodberg, David ^a   Kajiwara, Yuji ^a   Willner, Judith P ^a   Tryfon, Ana ^a   Buxbaum, Joseph D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN; PROTEIN SHANK3; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; CASE REPORT; CHILD; CLINICAL GENETICS; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; EXON; FALSE POSITIVE RESULT; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC DATABASE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; IMMUNOBLOTTING; INHERITANCE; MALE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NERVOUS SYSTEM DEVELOPMENT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; TRANSLATIONAL RESEARCH;

ANIMALS; AUTISTIC DISORDER; CARRIER PROTEINS; CHILD; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MALE; MUTATION; TRANSCRIPTION, GENETIC;

EID: 79952292086     PISSN: 00068993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainres.2010.11.005     Document Type: Article

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