Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S
J Clin Endocrinol Metab. 1999 84 (3): 1061-71

PMID: 10084596 · DOI:10.1210/jcem.84.3.5541

MeSH Terms (19)

Child, Preschool Christianity Chromosome Mapping Congenital Hypothyroidism Consanguinity Ethnicity Female Genetic Linkage Goiter Haplotypes Homozygote Humans Hypothyroidism Intellectual Disability Iodide Peroxidase Male Mutation Pedigree Phenotype

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