A new silent germline mutation of the tsh receptor: Coexpression in a hyperthyroid family member with a second activating somatic mutation

Thyroid

Volumn 18, Issue 5, 2008, Pages 499-508

  Gozu, Hulya Iliksu ^a   Mueller, Sandra ^b   Bircan, Rifat ^c   Krohn, Knut ^d   Ekinci, Gazenfer ^e   Yavuzer, Dilek ^a   Sargin, Haluk ^a   Sargin, Mehmet ^a   Ones, Tunc ^e   Gezen, Cem ^a   Orbay, Ekrem ^a   Cirakoglu, Beyazit ^c   Paschke, Ralf ^b  

^a DR LUTFI KIRDAR KARTAL EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^d UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^e MARMARA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; METHYLPREDNISOLONE; PROPRANOLOL; PROPYLTHIOURACIL; THYROTROPIN RECEPTOR;

ADULT; ALLELE; ARTICLE; CELL SURFACE; CLINICAL ARTICLE; ENZYME ACTIVITY; FAMILY; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; HUMAN; HYPERTHYROIDISM; LINEAR REGRESSION ANALYSIS; MALE; PRIORITY JOURNAL; SOMATIC MUTATION; THYROID SCINTISCANNING; THYROTOXICOSIS; TOXIC GOITER;

ADOLESCENT; ADULT; AGED; CHILD; CYCLIC AMP; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; HYPERTHYROIDISM; LINEAR MODELS; MALE; MIDDLE AGED; PEDIGREE; RECEPTORS, THYROTROPIN; THYROTOXICOSIS;

EID: 43449089203     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2007.0335     Document Type: Article

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