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Volumn 26, Issue 5, 2009, Pages 381-385
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A novel L218p mutation in nadh-cytochrome b5 reductase associated with type i recessive congenital methemoglobinemia
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Author keywords
Congenital methemoglobinemia; Cyanosis; Cytochrome b5 reductase deficiency
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Indexed keywords
ASCORBIC ACID;
CYTOCHROME B5 REDUCTASE;
HEMOGLOBIN;
LEUCINE;
METHEMOGLOBIN;
PROLINE;
ANAMNESIS;
ARTICLE;
CASE REPORT;
CHILD;
ENZYME ACTIVITY;
GENE MUTATION;
GENE SEQUENCE;
HEREDITARY METHEMOGLOBINEMIA;
HUMAN;
MALE;
METHEMOGLOBINEMIA;
PRESCHOOL CHILD;
THORAX RADIOGRAPHY;
AMINO ACID SUBSTITUTION;
ASCORBIC ACID;
CHILD;
CYANOSIS;
CYTOCHROME-B(5) REDUCTASE;
GENES, RECESSIVE;
HUMANS;
MALE;
METHEMOGLOBIN;
METHEMOGLOBINEMIA;
MUTATION;
VITAMINS;
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EID: 68449091767
PISSN: 08880018
EISSN: 15210669
Source Type: Journal
DOI: 10.1080/08880010902979233 Document Type: Article |
Times cited : (3)
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References (8)
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