The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 9, 2001, Pages 4429-4433

  Biedermann, Heike ^a,b   Schöneberg, Torsten ^c   Hess, Claudia ^e   Germak, John ^d   Gudermann, Thomas ^e   Grüters, Annette ^a,b  

^a Otto Heubner Centrum fur Kinder und Jugendmedizin   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d OHIO STATE UNIVERSITY   (United States)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; GLYCINE; LIOTHYRONINE; MEMBRANE PROTEIN; PHOSPHOLIPASE C; PROPYLTHIOURACIL; SERINE; THYROTROPIN RECEPTOR; THYROXINE;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOIMMUNE DISEASE; CASE REPORT; ENZYME ACTIVATION; FAMILIAL DISEASE; GENE LOCATION; GENE MUTATION; GERM LINE; HUMAN; HYPERTHYROIDISM; MALE; MEMBRANE BINDING; NEWBORN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DETERMINATION; PROTEIN DOMAIN; THYROID HORMONE RELEASE;

ADENYLATE CYCLASE; ANIMALS; CHILD, PRESCHOOL; COS CELLS; CYCLIC AMP; DNA; FEMALE; GENOME; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; HYPERTHYROIDISM; MALE; MUTATION, MISSENSE; PEDIGREE; PHOSPHOLIPASE C; PLASMIDS; RECEPTORS, THYROTROPIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THYROID HORMONES; THYROTROPIN;

EID: 0034853605     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.9.4429     Document Type: Article

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