endolinx Medical News about Genotype-Phenotype Relationship

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FDA Update: Thyrotropin Approved For Thyroid Cancer Ablation
Tracy Hampton, PhD, MDLinx Oncology

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Article Summary

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Genotype-Phenotype Relationship in Patients with Mutations in Thyroid Hormone Transporter MCT8
Endocrinology, 04/22/08

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Free Abstract

Jansen J et al. - Mutations in MCT8 cause loss of function through reduced protein expression, impaired trafficking to the plasma membrane, or reduced substrate affinity. Mutants L434W, L568P, and S194F showed significant residual transport capacity, which may underlie the more advanced psychomotor development observed in patients with these mutations.

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