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- W2361570504 abstract "Objective:To identify thyroid peroxidase(TPO) gene mutations in two patients of a Chinese family with congenital hypothyroidism.Methods:Genomic DNA was isolated from peripheral blood samples of 2 patients and 2 healthy members in the pedigree.All of the 17 exons and flanking introns of TPO gene were amplified by PCR,then the PCR products were sequenced bi-directionally.Results:A small insertion mutation c.2268insT was found in TPO gene.Two patients of the family were both homozygous for c.2268insT.Their parents were heterozygous for the mutation.Conclusions:TPO gene mutation was one of the reasons which resulted in Chinese patients with congenital hypothyroidism." @default.
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- W2361570504 date "2011-01-01" @default.
- W2361570504 modified "2023-09-27" @default.
- W2361570504 title "Mutation analysis of thyroid peroxidase gene in a Chinese family with congenital hypothyroidism" @default.
- W2361570504 hasPublicationYear "2011" @default.
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