Recessive congenital methaemoglobinaemia: Cytochrome b5 reductase deficiency

British Journal of Haematology

Volumn 141, Issue 3, 2008, Pages 298-308

  Percy, Melanie J ^a,b   Lappin, Terry R ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

Author keywords

Cyanosis; Cytochrome b5 reductase; Microencephaly; Neurological development; Recessive congenital methaemoglobinaemia

Indexed keywords

ASCORBIC ACID; CYTOCHROME B5; CYTOCHROME B5 REDUCTASE; METHEMOGLOBIN;

CLINICAL FEATURE; CONFERENCE PAPER; CYANOSIS; CYB5R3 GENE; DIFFERENTIAL DIAGNOSIS; ENZYME DEFECT; ENZYME DEFICIENCY; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; METHEMOGLOBINEMIA; MICROCEPHALY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE;

AMINO ACID SEQUENCE; CYTOCHROME-B(5) REDUCTASE; DIAGNOSIS, DIFFERENTIAL; GENES, RECESSIVE; HUMANS; METHEMOGLOBINEMIA; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 42049097088     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07017.x     Document Type: Conference Paper

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