Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family
Rashmi Dongerdiye, Sujatha Jagadeesh, Beena Suresh, Aruna Rajendran, Rati Devendra, Prashant Warang, Prabhakar S Kedar
Journal of Clinical Pathology Oct 2021, 74 (10) 620-624; DOI: 10.1136/jclinpath-2020-206960