Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism

Thyroid

Volumn 15, Issue 9, 2005, Pages 1089-1094

  Claus, Maren ^a   Maier, Jacqueline ^a   Paschke, Ralf ^a   Kujat, Christoph ^b   Stumvoll, Michael ^a   Führer, Dagmar ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHYROID AGENT; CYCLIC AMP; GENOMIC DNA; INOSITOL PHOSPHATE; ISOLEUCINE; LEUCINE; LEVOTHYROXINE; LIOTHYRONINE; PHENYLALANINE; THIAMAZOLE; THYROID PEROXIDASE ANTIBODY; THYROID STIMULATING IMMUNOGLOBULIN; THYROTROPIN; THYROTROPIN RECEPTOR; THYROTROPIN RECEPTOR ANTIBODY; THYROXINE; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING ASSAY; CASE REPORT; CELL STRAIN COS7; CLINICAL FEATURE; CODON; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC ACCURACY; DNA DETERMINATION; DNA EXTRACTION; DNA SEQUENCE; DRUG MEGADOSE; ECHOGRAPHY; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE MUTATION; GERM LINE; GERMANY; GOITER; HETEROZYGOTE; HORMONE RECEPTOR INTERACTION; HORMONE SUBSTITUTION; HUMAN; HYPERTHYROIDISM; LEUKOCYTE; LIOTHYRONINE BLOOD LEVEL; MALE; MUTATIONAL ANALYSIS; NONHUMAN; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; THYROIDECTOMY; THYROTOXICOSIS; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; WILD TYPE;

ADOLESCENT; ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COS CELLS; DNA; FEMALE; FLOW CYTOMETRY; GERMANY; HUMANS; HYPERTHYROIDISM; INOSITOL PHOSPHATES; MUTAGENESIS, SITE-DIRECTED; MUTATION; RECEPTORS, THYROTROPIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THYROIDITIS, AUTOIMMUNE; THYROTROPIN;

EID: 26944450868     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2005.15.1089     Document Type: Article

References (20)

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