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在土耳其患者的SLC5A1变体与先天性葡萄糖-银糖吸收不良

Ferda Ö Hoşnut1, Andreas R Janecke2,3, Gülseren Şahin1

  • 1Department of Pediatric Gastroenterology, Hepatology and Nutrition, Dr. Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, University of Health Sciences, 06080 Ankara, Turkey.

Genes
|July 29, 2023
PubMed
概括

先天性葡萄糖-银糖吸收不良是一种罕见的遗传疾病,是由SGLT1基因的突变引起的. 这项研究确定了新的SGLT1变异,并扩大了对疾病的理解.

关键词:
一个SGLT1一个SGLT1细胞内膜网膜的内oplasmic网膜.葡萄糖-银糖吸收不良的情况葡萄糖酶化是什么? 葡萄糖酶化是什么?误解突变是一种错误的突变.跨膜域域是一个跨膜域.

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