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Partial deficiency of red cell 6-phosphogluconate dehydrogenase: a family study
- Source :
- Human genetics. 52(3)
- Publication Year :
- 1979
-
Abstract
- A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD 0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.
- Subjects :
- Genetics
Adult
Electrophoresis
Erythrocytes
Red Cell
Phosphogluconate Dehydrogenase
Chromosomal analysis
Biology
Molecular medicine
Human genetics
Pedigree
6-Phosphogluconate dehydrogenase
Biochemistry
Karyotyping
Chromosomes, Human
Humans
lipids (amino acids, peptides, and proteins)
Female
Allele
Metabolic disease
Genetics (clinical)
Alleles
Subjects
Details
- ISSN :
- 03406717
- Volume :
- 52
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Human genetics
- Accession number :
- edsair.doi.dedup.....4ed2c20726dd126977e45811c15307e8