Erythrocyte pyruvate kinase (PK) from 5 patients with cogenital non-spherocytic hemolytic and erythrocyte PK deficiency have been studied by immunological methods and electrofucusing. L type immunologically related PK was titrated in crude hemolysate with anti human liver L type PK rabbit serum and
✦ LIBER ✦
Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
✍ Scribed by P. Ferreira; L. Morais; R. Costa; C. Resende; C. Paz Dias; F. Araújo; E. Costa; J. Barbot; A. Vilarinho
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 51 KB
- Volume
- 159
- Category
- Article
- ISSN
- 0340-6997
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to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(S).