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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
We also found that 231T/A was associated with the M467T mutation in our series.
📌 3 Key Takeaways
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Objective & Hypothesis:M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients.
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Key Findings & Data:In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48).
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Conclusion & Impact:We also found that 231T/A was associated with the M467T mutation in our series.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients. In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48). The second most frequent mutation at the same nucleotide position was M467K, with an allele frequency of 4.2 percent (2/48). The polymorphism which is found in linkage disequilibrium with the M467T is 231T/A (exon 1). We also found that 231T/A was associated with the M467T mutation in our series.
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Cite This Article
DAYANGAÇ, D., BEŞBAŞ, N., KALKANOĞLU, H. S., AYDOĞDU, D. S., ERDEM, H., COŞKUN, T. (2022). Molecular genetic analyses of cystinuria type 1 in 24 turkish patients. Turkish Journal of Pediatrics, Cilt: 43 - Sayı: 2, 110–113. https://ajindex.com/articles/613299