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Updated: Jun 10, 2025

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome
José Francisco da Silva Franco1, Raquel Leão Neves1, Alef Nascimento Menezes1
1Universidade Federal de São Paulo, São Paulo, Brazil.
Clinical Genetics
|October 11, 2024
Abstract:
The patient had clinical suspicion of THES. Complex genetic analyzes using WES, WGS were performed without success in the diagnosis. Further molecular analyzes using RNA and protein was necessary to reach the final correct THES diagnosis.
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