Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Lazzaro, Maribeth A ^a,b   Todd, Matthew A M ^a   Lavigne, Paul ^a   Vallee, Dominic ^a   De Maria, Adriana ^a,b   Picketts, David J ^a,c  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^b HEALTH CANADA   (Canada)

^c UNIVERSITY OF OTTAWA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SNF2L; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; ISOPROTEIN; SMARCA1 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALTERNATIVE RNA SPLICING; ARTICLE; CELLULAR DISTRIBUTION; CHROMOSOMAL LOCALIZATION; CHROMOSOME XQ; CLINICAL ARTICLE; COHORT ANALYSIS; COMPUTER MODEL; CONSENSUS SEQUENCE; CONTROLLED STUDY; EXON; FAMILY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; X LINKED MENTAL RETARDATION; CELL LINE; DNA SEQUENCE; GENETIC TRANSFECTION; GENETICS; MUTATION; POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; CELL LINE; DNA-BINDING PROTEINS; EXONS; HUMANS; MENTAL RETARDATION, X-LINKED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TRANSFECTION;

EID: 40649097999     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-11     Document Type: Article

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