Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference5 articles.
1. Homozygous pyruvate kinase deficiency in Hong Kong ethnic minorities;Wei;J Paediatr Child Health,1992
2. A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child;Li;Fetal Pediatr Pathol,2014
3. A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice;Cotton;Eur J Pediatr,2001
4. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis;Maillet;Hum Mutat,1996
5. Primary red cell hydration disorders: pathogenesis and diagnosis;Caulier;Int J Lab Hematol,2018
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