Two Novel Mutations in the Reduced Nicotinamide Adenine Dinucleotide (NADH)-Cytochrome b5 Reductase Gene of a Patient With Generalized Type, Hereditary Methemoglobinemia

Hereditary methemoglobinemia due to reduced nicotinamide adenine dinucleotide (NADH) cytochrome b5 reductase (b5R) deficiency is classified into two types, an erythrocyte (type I) and a generalized (type II). We investigated the b5R gene of a patient with type II from a white United Kingdom (UK) fam...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Blood 1996-10, Vol.88 (8), p.3208-3215
Hauptverfasser:	Manabe, Jun-ichi, Arya, Roopen, Sumimoto, Hideki, Yubisui, Toshitsugu, Bellingham, Alastair J., Layton, D. Mark, Fukumaki, Yasuyuki
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Anemias. Hemoglobinopathies Base Sequence Biological and medical sciences Catalysis Child Cloning, Molecular Codon - genetics Cytochrome Reductases - chemistry Cytochrome Reductases - genetics Cytochrome-B Reductase Diseases of red blood cells DNA Mutational Analysis Escherichia coli Female Hematologic and hematopoietic diseases Heterozygote Humans Intellectual Disability - genetics Kinetics Male Medical sciences Methemoglobinemia - genetics Phenotype Point Mutation Polymerase Chain Reaction Protein Denaturation Protein Structure, Secondary Recombinant Fusion Proteins - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!