Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The LMBRD1 gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive Methylmalonic aciduria and homocystinuria cblF.
| 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. |
Rutsch F et al. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. 
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| 2. |
Wang YH et al. (2005) Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.
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| 3. |
Orphanet article Orphanet ID 173562
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| 4. |
NCBI article NCBI 55788
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| 5. |
OMIM.ORG article Omim 612625
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| 6. |
Wikipedia article Wikipedia EN (LMBRD1)
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