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Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

The intron sequences of the human L-type pyruvate kinase gene (PKLR) were determined by using primers selected from the known cDNA sequence. Oligonucleotide primers for these determined intron sequences were used to sequence the exons. When this technique was applied to the DNA of 10 unrelated patie...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Baronciani, L, Beutler, E
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC46499/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8483951/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.90.9.4324
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