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首页> 外文期刊>Kidney International Reports >SAT-436 CLINICAL AND GENETIC CHARACTERISTICS OF?AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) PATIENTS FROM OMAN AND PKHD1 FOUNDER MUTATIONS
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SAT-436 CLINICAL AND GENETIC CHARACTERISTICS OF?AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) PATIENTS FROM OMAN AND PKHD1 FOUNDER MUTATIONS

机译:SAT-436临床和遗传特征?常染色体隐性多囊肾疾病(ARPKD)来自阿曼和PKHD1创始人突变的患者

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Introduction: The Omani population has a high prevalence of rare ge-netic disorders, and their study provides unique clinical and geneticinsights. Autosomal recessive polycystic kidney disease (ARPKD) is oneof the leading causes of kidney and liver-associated morbidity andmortality in the country. We aimed to describe the clinical and geneticprofile of ARPKD patients from Oman.
机译:介绍:阿曼人口对稀有通用核酸疾病的普及率很高,他们的研究提供了独特的临床和遗夹。常染色体隐性多囊肾疾病(ARPKD)是肾脏和肝脏相关性发病率安德利地区的主要原因。我们旨在描述阿曼的Arpkd患者的临床和遗传生产。

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