Article

Genetic and Clinical Characteristics of Japanese Cystinuria with Exon and Exon-Intron Boundary Variants

2024-10-16

Abstract excerpt

<title>Abstract</title> <p>Cystinuria is the most common genetic cause of urinary stones. Defect in <italic>SLC3A1</italic>/<italic>SLC7A9</italic> genes coding cystine transporter proteins rBAT/b<sup>0,+</sup>AT will cause Cystinuria. The current work analyzed the clinical and genetics characteristics of Japanese Cystinuria patients. In total, 101 Cystinuria patients were studied. Clinical phenotypes were define...

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Literature Corpus work: db0c0369-2a52-5698-8b6a-2bb647c39130
DOI: 10.21203/rs.3.rs-4889642/v1

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