A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease

Human Genetics

Volumn 103, Issue 4, 1998, Pages 377-381

  Tsuda, Masahiko ^a   Kaneda, Mizuho ^b   Sakiyama, Takeshi ^a   Inana, Ichiro ^a   Owada, Misao ^a   Kiryu, Chika ^c   Shiraishi, Takuo ^d   Kakinuma, Katsuko ^b,d  

^a NIHON UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

^d 2 2 1 Matsuei 990 2473   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B558; HEME; HISTIDINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; SUPEROXIDE; TYROSINE;

ARTICLE; BACTERIAL INFECTION; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; GENE MUTATION; HUMAN; IMMUNOBLOTTING; INFANT; MALE; NEUTROPHIL; NUCLEIC ACID BASE SUBSTITUTION; PHAGOCYTE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SPECTROPHOTOMETRY; X CHROMOSOME RECESSIVE INHERITANCE;

ADOLESCENT; CYTOCHROME B GROUP; GRANULOMATOUS DISEASE, CHRONIC; HEME; HUMANS; LIGANDS; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; MUTATION; NADPH DEHYDROGENASE; NADPH OXIDASE; NEUTROPHILS; PHOSPHOPROTEINS; X CHROMOSOME;

EID: 0031723521     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050836     Document Type: Article

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