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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...

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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

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