PKLR + HLA
Deellabo: | PGD DNA |
Gen (Gen Code): | PKLR + HLA |
Aliases Gen: | PKLR, PK1, PKL, PKR, PKRL, RPK |
Gen ID (NCBI): | 5313 |
OMIM Gen ID: | 609712 |
Chromosomale locatie: | 1q21 |
Genetische aandoening / Analyse: | Pyruvaat kinase deficiëntie van rode cellen |
OMIM aandoening ID: | 266200 |
Overerving: | AR |
Opmerking 1: | * If the affected child has been transplanted with bone marrow, we cannot use the blood for DNA extraction. DNA from blood taken before transplantation or a sample from an other tissue (non-haematopoietic) will be necessary. |
Aliases aandoening: | PYRUVATE KINASE DEFICIENCY OF RED CELLS PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE PK DEFICIENCY |