NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I

Journal of Clinical Pathology

Volumn 61, Issue 10, 2008, Pages 1122-1123

  Percy, M J ^a   Asian, D ^b  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b Faculty of Medicine   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ASCORBIC ACID; CYTOCHROME B5; FLAVINE ADENINE NUCLEOTIDE; HEMOGLOBIN VARIANT; METHEMOGLOBIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE;

ARTICLE; BLOOD GAS ANALYSIS; CASE REPORT; CYANOSIS; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; INFANT; MALE; METHEMOGLOBINEMIA; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

ASCORBIC ACID; CHILD; CONSANGUINITY; CYTOCHROME-B(5) REDUCTASE; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; MALE; METHEMOGLOBINEMIA; MUTATION, MISSENSE; TURKEY;

EID: 53649098157     PISSN: 00219746     EISSN: None     Source Type: Journal    
DOI: 10.1136/jcp.2008.058701     Document Type: Article

References (9)

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2. Percy MJ, Gillespie MJ, Savage G, et al. Familial idiopathic methemoglobinemia revisled: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. Blood 2002;100:3447-9.
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7. Percy MJ, Oren H, Savage G, et al. Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase. Hematol J 2004;5:367-70.
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9. Yilmaz D, Cogulu O, Ozkmay F, et al. A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II. Am J Med Genet A 2005;133:101-2.