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Article

Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.

Archives of biochemistry and biophysics - 1 Mar 1996

Ookawara T, Davé V, Willems P, Martin J J, de Barsy T, Matthys E, Yoshida A

Abstract excerpt

The molecular abnormality of a phosphoglycerate kinase variant which was associated with severe tissue enzyme deficiency and episodes of muscle contractions and myoglobinuria was examined. Analysis of the patient's DNA showed the existence of a nucleotide transversion A/T - C/G in exon 7. No other nucleotide change was detected in the coding region of the variant gene. The mutation should produce a single amino...

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Identifiers

PMID: 8615693
DOI: 10.1006/abbi.1996.0089

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