Congenital methaemoglobinaemia Type I in a Turkish infant due to novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase

Hematology Journal

Volumn 5, Issue 4, 2004, Pages 367-370

  Percy, Melanie J ^a   Oren, Hale ^b   Savage, Geraldine ^c   Irken, Gülersu ^b  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b DOKUZ EYLUL UNIVERSITY   (Turkey)

^c ROYAL VICTORIA HOSPITAL   (United Kingdom)

Author keywords

Enzyme deficiency; Methaemoglobin; NADH cytochrome b5 reductase; Novel mutation; Recessive congenital methaemoglobinaemia

Indexed keywords

ASCORBIC ACID; CYTOCHROME B5 REDUCTASE; HEMOGLOBIN; METHEMOGLOBIN; PROLINE; SERINE;

AMINO ACID SUBSTITUTION; ANGIOGRAPHY; ARTICLE; CASE REPORT; CHILD DEVELOPMENT; CHILD GROWTH; CODON; CONGENITAL HEART DISEASE; CYANOSIS; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STABILITY; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; METHEMOGLOBINEMIA; NUCLEIC ACID BASE SUBSTITUTION; TURKEY (REPUBLIC);

AMINO ACID SUBSTITUTION; ASCORBIC ACID; CYTOCHROME-B(5) REDUCTASE; FEMALE; HUMANS; INFANT; METHEMOGLOBINEMIA; MUTATION, MISSENSE; PROLINE; SERINE; TREATMENT OUTCOME; TURKEY;

EID: 4544275213     PISSN: 14664860     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.thj.6200380     Document Type: Article

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