A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

BACKGROUND: Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene. It is mainly characterized by chronic nonspherocytic hemolytic anemia though other symptoms such as splenomegaly, hepatomegaly, pallor, fa...

Descripción completa

Detalles Bibliográficos
Autores principales: Rehman, Atta Ur, Rashid, Abdur, Hussain, Zubair, Shah, Khadim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848962/
https://www.ncbi.nlm.nih.gov/pubmed/35168679
http://dx.doi.org/10.1186/s13256-022-03292-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848962/
https://www.ncbi.nlm.nih.gov/pubmed/35168679
http://dx.doi.org/10.1186/s13256-022-03292-z

Ejemplares similares