Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation

Human Mutation

Volumn 26, Issue 4, 2005, Pages 322-331

  Ilmarinen, Tanja ^a   Eskelin, Petra ^a,b   Halonen, Maria ^a   Rüppell, Taina ^a   Kilpikari, Riika ^a   Torres, Gilberto Duran ^a   Kangas, Hannele ^a   Ulmanen, Ismo ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

APECED; APS1; Dominant negative mutation; Monogenic autoimmune disease

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; COMPLEMENTARY DNA;

AMINO ACID ANALYSIS; ANIMAL CELL; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CELLULAR DISTRIBUTION; COMPLEX FORMATION; DNA BINDING; DOMINANT INHERITANCE; G22W GENE; GENE; GENE MUTATION; IMMUNOLOGICAL TOLERANCE; MUTATOR GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; RISK FACTOR; SAND GENE; TRANSCRIPTION REGULATION;

ANIMALS; CACO-2 CELLS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COLON; COS CELLS; GENES, DOMINANT; HUMANS; KIDNEY; MICROSCOPY, FLUORESCENCE; MUTATION; PEPTIDES; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT FUSION PROTEINS; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS; TRANSFECTION;

EID: 25444446105     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20224     Document Type: Article

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