| Literature DB >> 1177282 |
B Colombe, M P Benitez, L Bernini, J Elien, H Wajeman, D Labie.
Abstract
A new case of haemoglobin Bucuresti beta 42 (CD1) Phe yields Leu is described in a Cuban family. The functional studies confirm the results already described--a low oxygen affinity and a decreased haem-haem interaction. In addition to this, the reactivity for 2, 3 diphosphoglycerate (2, 3 DPG) was shown to be normal. The instability is mostly due to a fast rate of haemichromes formation.Entities:
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Year: 1975 PMID： 1177282 PMCID： PMC1013293 DOI： 10.1136/jmg.12.3.297
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318