Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

Journal of the Neurological Sciences

Volumn 264, Issue 1-2, 2008, Pages 56-62

  Provenzano, Claudia ^a   Veneziano, Liana ^a   Appleton, Richard ^b   Frontali, Marina ^a   Civitareale, Donato ^a  

^a CNR   (Italy)

^b ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Benign hereditary chorea; BHC; Haploinsufficiency; NKX2.1; TTF 1

Indexed keywords

MUTANT PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2 1; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BENIGN HEREDITARY CHOREA; BREATHING; CASE REPORT; CHOREA; CYTOPLASM; FEMALE; GENE MUTATION; GENE TARGETING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA BINDING; SEQUENCE ANALYSIS; STOP CODON; THYROID FUNCTION; TRANSCRIPTION REGULATION; WILD TYPE;

ANIMALS; BRAIN; BRAIN CHEMISTRY; CELL NUCLEUS; CHOREA; CODON, NONSENSE; CYTOPLASM; DNA MUTATIONAL ANALYSIS; ENGLAND; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; POINT MUTATION; RATS; TRANSCRIPTION FACTORS;

EID: 36649028914     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.06.056     Document Type: Article

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