A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease

Human Genetics

Volumn 108, Issue 6, 2001, Pages 504-510

  Borgato, L ^a   Bonizzato, A ^a   Lunardi, C ^a   Dusi, S ^a   Andrioli, G ^a   Scarperi, A ^a   Corrocher, R ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE DEHYDROGENASE;

ADULT; ARTICLE; ASPERGILLOSIS; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; DISEASE SEVERITY; ENZYME DEFECT; EXON; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INTRON; MALE; P67 PHOX GENE; PHAGOCYTE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENT INFECTION; RELIABILITY; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ADULT; BASE SEQUENCE; CONSANGUINITY; DNA; DNA MUTATIONAL ANALYSIS; GENE DUPLICATION; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PHOSPHOPROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0034924369     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100526     Document Type: Article

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