Article

Hartnup disease combined with iminocaciduria: two novel mutations in the SLC6A19 gene (a case report)

2024-12-19

Abstract excerpt

<title>Abstract</title> <p>Purpose To report a case of Hartnup disease combined with iminocaciduria, and to explore its clinical manifestations and genetic mutations. Methods Clinical data of the patient were collected, whole-exome sequencing was performed using high-throughput sequencing technology to detect SLC6A19 gene mutations. Sanger sequencing was used for family verification, and software was employed t...

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Literature Corpus work: 4471ffb6-b062-5e6b-be15-fc45c2d5b9c9
DOI: 10.21203/rs.3.rs-5447826/v1

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