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Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.
Lemarchandel V, Joulin V, Valentin C, Rosa R, Galactéros F, Rosa J, Cohen-Solal M. Lemarchandel V, et al. Among authors: rosa r, rosa j. Blood. 1992 Nov 15;80(10):2643-9. Blood. 1992. PMID: 1421379 Free article.
A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown to be associated with 30% to 50% of an inactive enzyme detectable by specific antibodies and resulting from an 89 Arg-->Cys substitution. ...
A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown to be associated wit …
1,971 results