1977
DOI: 10.1159/000130809
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Gene dose effect: intraband mapping of the <i>LDH A </i>locus using cells from four individuals with different interstitial deletions of 11p

Abstract: 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 lip for which this patient alone was deficient, i.e., to band llpl2 (region 11p1203→11p1208).

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Cited by 66 publications
(18 citation statements)
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“…In the human genome, RRM1 has recently been mapped to the short arm of chromosome 11 (Engstrom and Francke, 1985). Thus RRM1 is linked to the lactate dehydrogenase gene (LDHA) on human chromosome II (Francke et al, 1977;Lewis et al" 1985). Since LDHA has also been mapped to hamster chromosome 3 (Adair el al., 1983).…”
Section: Discussionmentioning
confidence: 99%
“…In the human genome, RRM1 has recently been mapped to the short arm of chromosome 11 (Engstrom and Francke, 1985). Thus RRM1 is linked to the lactate dehydrogenase gene (LDHA) on human chromosome II (Francke et al, 1977;Lewis et al" 1985). Since LDHA has also been mapped to hamster chromosome 3 (Adair el al., 1983).…”
Section: Discussionmentioning
confidence: 99%
“…1 -11 One additional case was reported with del(11)(p11p12), but it is unclear if this child had the features of PSS. 12 PSS is a contiguous gene syndrome (CGS) with two genes implicated in specific clinical features of this disorder. Exostosin 2 (EXT2 [MIM*60821) maps within 11p11.2 13,14 and mutations in this gene result in the autosomal dominant condition of isolated hereditary multiple exostoses [MIM#133701].…”
Section: Introductionmentioning
confidence: 99%
“…and PTH have been assigned to the short arm of human chromosome II (Deisseroth et al. 1978;Franckc et al;1979, Junien cl al. ;Naylor et al, 1981;McBride et al, 1982) and to two separate chromosomes, 2 and 7, of the mouse (Lalley et al.…”
Section: Discussionmentioning
confidence: 99%