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1 Ergebnisse
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Novel PKLR missense mutation (A300P) causing pyruvate kinas..:
Naglaa Fawaz
;
Ismail Beshlawi
;
Alauldeen Alqasim
...
https://doi.org/10.1002/ccr3.5315. , 2022
Link:
https://doi.org/10.1002/ccr3.5315
RT Journal T1
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:1998035b29124e2d8cae2c4a48323fa5&Exemplar=1&LAN=DE A1 Naglaa Fawaz A1 Ismail Beshlawi A1 Alauldeen Alqasim A1 Mathew Zachariah A1 Roberta Russo A1 Immacolata Andolfo A1 Antonella Gambale A1 Anil Pathare A1 Achille Iolascon PB Wiley YR 2022 K1 congenital dyserythropoietic anemia K1 hereditary anemia K1 PKLR missense mutation (A300P) K1 pyruvate kinase K1 targeted next‐generation sequencing K1 Medicine K1 R K1 Medicine (General) K1 R5-920 JF https://doi.org/10.1002/ccr3.5315 LK http://dx.doi.org/https://doi.org/10.1002/ccr3.5315 DO https://doi.org/10.1002/ccr3.5315 SF ELIB - SuUB Bremen
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