Recessive hereditary methemoglobinemia: Two novel mutations in the NADH-cytochrome b5 reductase gene

Blood Cells, Molecules, and Diseases

Volumn 41, Issue 1, 2008, Pages 50-55

  Fermo, Elisa ^a   Bianchi, Paola ^a   Vercellati, Cristina ^a   Marcello, Anna Paola ^a   Garatti, Massimo ^a   Marangoni, Ornella ^b   Barcellini, Wilma ^a   Zanella, Alberto ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b Presidio Ospedaliero di San Giovanni Bianco   (Italy)

Author keywords

Cytochrome b5 reductase deficiency; DIA1 gene; Methemoglobinemia; Mutations

Indexed keywords

CYTOCHROME B5 REDUCTASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE IDENTIFICATION; GENE MUTATION; HEREDITARY METHEMOGLOBINEMIA; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

ALLELES; CYTOCHROME-B(5) REDUCTASE; GENES, RECESSIVE; HUMANS; INFANT; MALE; METHEMOGLOBIN; METHEMOGLOBINEMIA; MIDDLE AGED; MUTATION; SEQUENCE ALIGNMENT;

EID: 44649150258     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.02.002     Document Type: Article

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