A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism

European Journal of Endocrinology

Volumn 145, Issue 3, 2001, Pages 249-254

  Alberti, L ^a   Proverbio, M C ^a   Costagliola, S ^a   Weber, G ^a   Beck Peccoz, P ^a   Chiumello, G ^a   Persani, L ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CHORIONIC GONADOTROPIN BETA SUBUNIT; CYCLIC AMP; DNA; ESTRADIOL; LIOTHYRONINE; MEMBRANE PROTEIN; RECEPTOR PROTEIN; THIAMAZOLE; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE;

ADOLESCENCE; ANIMAL CELL; ARTICLE; AUTOIMMUNITY; AUTOSOMAL DOMINANT DISORDER; BIOACCUMULATION; CALCULATION; CASE REPORT; CELL MEMBRANE; CELL STRAIN; CHILDHOOD; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DISEASE TRANSMISSION; EVALUATION; FAMILIAL DISEASE; FEMALE; FLOW CYTOMETRY; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENE EXPRESSION; GENE MUTATION; GERM LINE; HETEROZYGOSITY; HUMAN; HYPERTHYROIDISM; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN TARGETING; RECEPTOR GENE; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SYMPTOM; THYROTOXICOSIS;

EID: 0034852079     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1450249     Document Type: Article

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