Molecular basis of two novel mutations found in type I methemoglobinemia

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 4, 2011, Pages 277-281

  Lorenzo, Felipe R ^a   Phillips, John D ^a   Nussenzveig, Roberto ^b   Lingam, Bindu ^a   Koul, Parvaiz A ^c   Schrier, Stanley L ^d   Prchal, Josef T ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

^c Sheri Kashmir Institute of Medical Sciences   (India)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cyanosis; Gene mutation; Methemoglobinemia; NADH cytochrome b5 reductase 3; Protein structure

Indexed keywords

CYTOCHROME B5 REDUCTASE; CYTOCHROME B5 REDUCTASE 3; FLAVINE ADENINE NUCLEOTIDE; RECOMBINANT PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; ASIAN; CASE REPORT; CHILD; CONTROLLED STUDY; CYTOCHROME B5 REDUCTASE 3 GENE; ENZYME DEFICIENCY; ETHNIC DIFFERENCE; FEMALE; GENE; GENE AMPLIFICATION; GENE MAPPING; GENETIC ASSOCIATION; GREECE; HISPANIC; HUMAN; KINETICS; METHEMOGLOBINEMIA; METHEMOGLOBINEMIA TYPE 1; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN PURIFICATION; PROTEIN STABILITY; SCHOOL CHILD; THERMODYNAMICS; THERMOSTABILITY; WILD TYPE;

BINDING SITES; CYTOCHROME-B(5) REDUCTASE; ENZYME STABILITY; FLAVIN-ADENINE DINUCLEOTIDE; GREECE; HUMANS; INDIA; KINETICS; METHEMOGLOBINEMIA; MEXICO; MUTATION; NAD; PHENOTYPE; THERMODYNAMICS;

EID: 79953676562     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2011.01.005     Document Type: Article

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