Article
Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens.
Blood - 1 Aug 1994
Cohen-Solal M, Valentin C, Plassa F, Guillemin G, Danze F, Jaisson F, Rosa R
Abstract excerpt
Phosphoglycerate kinase (PGK) deficiency is generally associated with chronic hemolytic anemia, although it can be accompanied by either mental retardation or muscular disease. Genomic DNAs of two PGK-deficient patients previously described in France were sequenced directly after polymerase chain reaction amplification. The PGK Créteil variant arises from a G-->A nucleotide interchange at position 1022 in cDNA...
Topics
- Adult
- Anemia, Hemolytic
- Base Sequence
- DNA Primers
- Female
- Humans
- Intellectual Disability
- Male
- Molecular Sequence Data
- Mutation
- Phosphoglycerate Kinase