Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 5, 1998, Pages 1431-1436

  Grüters, Annette ^a   Schöneberg, Torsten ^b   Biebermann, Heike ^a   Krude, Heiko ^a   Krohn, Hans Peter ^c   Dralle, Henning ^d   Gudermann, Thomas ^b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b FREIE UNIVERSITÄT BERLIN   (Germany)

^c Reinhard Nieter Krankenhaus Stadtische Kliniken gGmbH   (Germany)

^d MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIMAZOLE; CYCLIC AMP; PROPRANOLOL; THIAMAZOLE; THYROTROPIN RECEPTOR;

CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; EXON; FEMALE; GENE LOCATION; GENE LOCUS; GENE MUTATION; HUMAN; HYPERTHYROIDISM; MOLECULAR DYNAMICS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; THYROID FUNCTION; THYROIDECTOMY;

ALLELES; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR SPACE; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; HYPERTHYROIDISM; INFANT; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, THYROTROPIN; RNA-DIRECTED DNA POLYMERASE; THYROIDECTOMY;

EID: 0031772403     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.5.1431     Document Type: Conference Paper

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