<i>SLC5A1</i> Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption

<i>SLC5A1</i> Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption

Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder caused by mutations in <i>SLC5A1</i> encoding the apical sodium/glucose cotransporter SGLT1. We present clinical and molecular data from eleven affected individuals with congenital glucose-galactose malabso...

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Bibliographic Details
Main Authors: Ferda Ö. Hoşnut, Andreas R. Janecke, Gülseren Şahin, Georg F. Vogel, Naz G. Lafcı, Paul Bichler, Thomas Müller, Lukas A. Huber, Taras Valovka, Aysel Ü. Aksu
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
glucose-galactose malabsorption
SGLT1
missense mutation
transmembrane domain
glycosylation
endoplasmic reticulum
Online Access:https://www.mdpi.com/2073-4425/14/7/1359

Internet

https://www.mdpi.com/2073-4425/14/7/1359

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