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Updated: Feb 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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临床负担,遗传异质性和诊断含义在2型初级高氧化的2型初级高氧化

Seema Hashmi1, Sabeeta Khatri2, Habib Qaiser2

  • 1Department of Pediatric Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan. seemahashmi2001@gmail.com.

Pediatric nephrology (Berlin, Germany)
|February 17, 2026
PubMed
概括

巴基斯坦儿童的2型原发性高氧化尿症 (PH2) 在诊断时显示出高级病的高负担. 确定了多种GRHPR基因突变,男性性别和高肌素预测疾病进展.

关键词:
慢性脏疾病 慢性脏疾病主要的2型高氧化尿.石头疾病是一种石头疾病.

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