Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism

Experimental and Clinical Endocrinology and Diabetes

Volumn 104, Issue SUPPL. 4, 1996, Pages 121-123

  Gruters A ^a,c   Kohler B ^a   Wolf, A ^a   Soling A ^a   De Vijlder, L ^b   Krude, H ^a   Biebermann, H ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Congenital hypothyroidism; Human thyroidperoxidase gene; Screening for mutations

Indexed keywords

THYROGLOBULIN; THYROID HORMONE; THYROID PEROXIDASE;

CONFERENCE PAPER; CONGENITAL HYPOTHYROIDISM; EXON; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPOTHYROIDISM; NEWBORN SCREENING; PRIORITY JOURNAL; THYROID HORMONE SYNTHESIS;

EID: 0029855448     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0029-1211718     Document Type: Conference Paper

References (7)

1. Abramovicz MJ, Tagorvnik HM, Varela V et al.: Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest 90: 1200-1204, 1992
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3. Bikker H, Waelkens JJJ, Bravenboer B, de Vijlder JJM: Congenital hypothyroidism caused by a premature termination signal in exon 10 of the Human Thyroid Peroxidase. Gene J Clin Endocrinol Metab 81: 2076-2079, 1996a
4. Bikker H, Baas F, de Vijlder JJM: Effect of mutations in the human thyroid peroxidase gene on iodide organification. J Endocrinol Invest (Suppl 6): 2
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7. Vulsma T: Etiology and pathogenesis of congenital hypothyroidism. Academic thesis, University of Amsterdam, Netherlands, 1991