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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect

A Matsuda1, S Kosugi

  • 1Department of Laboratory Medicine, Kyoto University School of Medicine, Japan.

The Journal of Clinical Endocrinology and Metabolism
|December 17, 1997
PubMed

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