Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The MAGED2 gene encodes a protein of still unknown function. Mutations cause x-linked transient antenatal Bartter syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Reinalter S et al. (1998) Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms. 
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| 2. |
Laghmani K et al. (2016) Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
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| 3. |
Lucas S et al. (1999) A new MAGE gene with ubiquitous expression does not code for known MAGE antigens recognized by T cells.
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| 4. |
Langnaese K et al. (2001) Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues.
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| 5. |
Ross MT et al. (2005) The DNA sequence of the human X chromosome.
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| 6. |
NCBI article NCBI 10916
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| 7. |
OMIM.ORG article Omim 300470
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| 8. |
Orphanet article Orphanet ID 459084
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| 9. |
Wikipedia article Wikipedia EN (MAGED2)
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