Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p.
The quantitative expression of LDH A was studied in hemolysates from four patients with different but overlapping interstitial deletions of the short arm of chromosome 11. Deficiency of LDH A was demonstrated in one patient, and the LDH A locus has been assigned to that segment of 11p for which this patient alone was deficient, i.e., to band 11p12 (region 11p1203 leads to 11p1208).
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005796:Genes; D006801:Humans; D007223:Infant; D007770:L-Lactate Dehydrogenase / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D008297:Male
D007770:L-Lactate Dehydrogenase