Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Molecular Biology,Biochemistry
Reference21 articles.
1. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter;Abramowicz;J. Clin. Invest.,1992
2. Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism;Bakker;J. Clin. Endocrinol. Metab.,2001
3. Amplification of N-myc oncogene in human melanoma cells;Bauer;Neoplasma,1990
4. A 20 basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism;Bikker;J. Clin. Endocrinol. Metab.,1994
5. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis;Bikker;Human Mutat.,1995
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