Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3.

Article

Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3.

Blood - 15 Mar 1991

Maeda M, Yoshida A

Abstract excerpt

We have identified the mutation in a phosphoglycerate kinase variant (PGK-Matsue) associated with severe enzyme deficiency, congenital nonspherocytic hemolytic anemia, and mental disorders. The mRNA coding for PGK was reverse transcribed and amplified by the polymerase chain reaction. Nucleotide...

Topics

Adenine
Anemia, Hemolytic
Base Sequence
Cytosine
DNA
Exons
Female
Guanine
Humans
Leucine
Male
Molecular Sequence Data
Mutation
Phosphoglycerate Kinase
Proline
Thymine

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