Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The RFT1 gene encodes an enzyme involved in glycosylation. Mutations cause autosomal recessive glycosylation disorder type 1N.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Haeuptle MA et al. (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation. 
|
| 2. |
Vleugels W et al. (2009) RFT1 deficiency in three novel CDG patients.
|
| 3. |
Jaeken J et al. (2009) RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
|
| 4. |
Ondruskova N et al. (2012) RFT1-CDG in adult siblings with novel mutations.
|
| 5. |
Helenius J et al. (2002) Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.
|
| 6. |
NCBI article NCBI 91869
|
| 7. |
OMIM.ORG article Omim 611908
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
