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Heterogeneity of hereditary methaemoglobinaemia: a study of 4 Cuban families with NADH-Methaemoglobin reductase deficiency including a new variant (Santiago de Cuba variant).

作者信息

González R, Estrada M, Wade M, de la Torre E, Svarch E, Fernández O, Ortiz R, Guzmán E, Colombo B

出版信息

Scand J Haematol. 1978 May;20(5):385-93. doi: 10.1111/j.1600-0609.1978.tb02472.x.

Abstract

NADH-methaemoglobin reductase deficiency has been found in 4 Cuban families; 3 subjects carried the mild form of the deficiency while in 2 sibs of the fourth family the deficiency was associated with neurological involvement. The parents in this family were consanguinous and the sibs were shown to be homozygous for a new fast electrophoretic variant. It was named Diaphorase Santiago de Cuba.

摘要

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