Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene encodes a hight-affinity sodium glucose transporter found in kidneys and intestinal. Loss of function mutations result in an autosomal recessive disorder characterized by malabsorption of glucose and galactose.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Turk E et al. (1994) Structure of the human Na+/glucose cotransporter gene SGLT1. 
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| 2. |
Martín MG et al. (1996) Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.
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| 3. |
Turk E et al. (1997) Membrane topology motifs in the SGLT cotransporter family.
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| 4. |
Orphanet article Orphanet ID 119693
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| 5. |
NCBI article NCBI 6523
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| 6. |
OMIM.ORG article Omim 182380
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| 7. |
Wikipedia article Wikipedia EN (SLC5A1)
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