Article
Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).
British journal of haematology - 1 Nov 1998
Zarza R, Alvarez R, Pujades A, Nomdedeu B, Carrera A, Estella J, Remacha A, Sánchez J M, Morey M, Cortes T, Pérez Lungmus G, Bureo E, Vives Corrons J L
Abstract excerpt
The PK-LR gene has been studied in 12 unrelated patients with red cell pyruvate kinase deficiency and hereditary nonspherocytic haemolytic anaemia (CNSHA). The entire codifying region of the R-type PK gene and the flanking intronic regions were analysed by single-stranded conformation polymorphis...
Topics
- Adolescent
- Adult
- Anemia, Hemolytic, Congenital Nonspherocytic
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational