Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population

Autor: Rashmi Dongerdiye, Meghana Bokde, Tejashree Anil More, Arati Saptarshi, Rati Devendra, Ashish Chiddarwar, Prashant Warang, Prabhakar Kedar
Rok vydání: 2023
Předmět:
Zdroj: Annals of Hematology. 102:1029-1036
ISSN: 1432-0584
0939-5555
DOI: 10.1007/s00277-023-05152-2
Databáze: OpenAIRE