title: Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations.
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, Maharashtra, India.
authors.forename: Prabhakar S
authors.initials: PS
authors.lastname: Kedar
authors.forename: Prashant
authors.initials: P
authors.lastname: Warang
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D042966:Cytochrome-B(5) Reductase / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007194:India; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D042966:Cytochrome-B(5) Reductase