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

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