Pyruvat Kinase Mangel (PK) - Beagle Typ
| Akronym: | PKD, PKDef, PK Deficiency |
| Gene: | PKLR |
| Mutation: | c.994G>A |
| Vererbung: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Methode: | Sanger sequencing |
| Akronym: | PKD, PKDef, PK Deficiency |
| Gene: | PKLR |
| Mutation: | c.994G>A |
| Vererbung: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Methode: | Sanger sequencing |