Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 4, 2010, Pages 291-299

  Roos, Dirk ^a   Kuhns, Douglas B ^b   Maddalena, Anne ^c   Bustamante, Jacinta ^d,e   Kannengiesser, Caroline ^e,f   de Boer, Martin ^a   van Leeuwen, Karin ^a   Köker, M Yavuz ^g   Wolach, Baruch ^h   Roesler, Joachim ⁱ   Malech, Harry L ^j   Holland, Steven M ^k   Gallin, John I ^j   Stasia, Marie José ^l  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b SAIC FREDERICK INC   (United States)

^c GENEDX   (United States)

^d IMAGINE INSTITUTE   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f BICHAT HOSPITAL   (France)

^g ERCIYES UNIVERSITY   (Turkey)

^h MEIR MEDICAL CENTER   (Israel)

ⁱ UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^j NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^k NATIONAL INSTITUTES OF HEALTH   (United States)

^l GRENOBLE UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Autosomal recessive; Chronic granulomatous disease; Mutation; NADPH oxidase; Polymorphism

Indexed keywords

CYTOCHROME; GENE PRODUCT; PROTEIN CYBA; PROTEIN NCF1; PROTEIN NCF2; PROTEIN NCF4; PROTEIN P22 PHOX; PROTEIN P67 PHOX; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHRONIC GRANULOMATOUS DISEASE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; CODON, NONSENSE; GENES, RECESSIVE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MUTATION; MUTATION, MISSENSE; NADPH OXIDASE; POINT MUTATION; POLYMORPHISM, GENETIC; PSEUDOGENES; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 77950299675     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.01.009     Document Type: Article

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