Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 12, 1997, Pages 4234-4238

  Führer, Dagmar ^a   Wonerow, Peter ^a   Willgerodt, Helmut ^a   Paschke, Ralf ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; PHENYLALANINE; THYROTROPIN RECEPTOR;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CELL STRAIN COS1; CHILD; CONTROLLED STUDY; FAMILIAL DISEASE; GENE ACTIVATION; GENE MUTATION; GOITER; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERTHYROIDISM; MALE; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; RECEPTOR GENE; THYROID HYPERPLASIA;

ANIMALIA;

EID: 0030734932     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.12.4234     Document Type: Article

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