Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome

Human Mutation

Volumn 33, Issue 12, 2012, Pages 1676-1686

  Forrest, Marc ^a   Chapman, Ria M ^a   Doyle, A Michelle ^a   Tinsley, Caroline L ^a   Waite, Adrian ^a   Blake, Derek J ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Mental retardation; Missense mutation; Pitt Hopkins syndrome; TCF4; Transcription factor

Indexed keywords

HELIX LOOP HELIX PROTEIN; HETERODIMER; HOMODIMER; LUCIFERASE; TRANSCRIPTION FACTOR;

ARTICLE; CNTNAP2 GENE; DEVELOPMENTAL DISORDER; FLUORESCENCE; GENE; GENETIC DISORDER; HUMAN; HUMAN CELL; MISSENSE MUTATION; NRXN1 GENE; PITT HOPKINS SYNDROME; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN EXPRESSION; TRANSCRIPTION FACTOR 4 GENE;

ANIMALS; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CELL ADHESION MOLECULES, NEURONAL; CELL NUCLEUS; CERCOPITHECUS AETHIOPS; COS CELLS; FACIES; GENES, REPORTER; HEK293 CELLS; HUMANS; HYPERVENTILATION; INTELLECTUAL DISABILITY; LUCIFERASES, RENILLA; MEMBRANE PROTEINS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PROMOTER REGIONS, GENETIC; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION;

EID: 84869096265     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22160     Document Type: Article

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