Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous Disease (CGD)

Human Mutation

Volumn 31, Issue 2, 2010, Pages 151-158

  Gentsch, Marcus ^a   Kaczmarczyk, Aneta ^b   Van Leeuwen, Karin ^c,m   De Boer, Martin ^c,m   Kaus Drobek, Magdalena ^b,l,n   Dagher, Marie Claire ^d   Kaiser, Petra ^e   Arkwright, Peter D ^f   Gahr, Manfred ^a   Rösen Wolff, Angela ^a   Bochtler, Matthias ^b,l   Secord, Elizabeth ^g   Britto Williams, Pamela ^g   Saifi, Gulam Mustafa ^h   Maddalena, Anne ^h   Dbaibo, Ghassan ⁱ   Bustamante, Jacinta ^j,k   Casanova, Jean Laurent ^j,k   Roos, Dirk ^c   Roesler, Joachim ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

^c SANQUIN RESEARCH   (Netherlands)

^d CNRS   (France)

^e KLINIKUM BREMEN MITTE   (Germany)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g WAYNE STATE UNIVERSITY   (United States)

^h GENEDX   (United States)

ⁱ AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^j IMAGINE INSTITUTE   (France)

^k UNIVERSITÉ PARIS DESCARTES   (France)

^l MAX PLANCK INSTITUTE OF MOLECULAR CELL BIOLOGY AND GENETICS   (Germany)

^m UNIVERSITY OF AMSTERDAM   (Netherlands)

ⁿ CARDIFF UNIVERSITY   (United Kingdom)

more..

Author keywords

Immunodeficiency; NCF2; Phagocyte; Recombination

Indexed keywords

CELL PROTEIN; COMPLEMENTARY DNA; NEUTROPHIL CYTOSOLIC FACTOR 2; PROTEIN P67; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG;

ARTICLE; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ETHNICITY; EXON; GENE DELETION; GENETIC RECOMBINATION; HALF LIFE TIME; HOMOZYGOSITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FUNCTION; TANDEM REPEAT; TETRATRICOPEPTIDE REPEAT;

ALU ELEMENTS; BASE SEQUENCE; CELL LINE; EXONS; GENE EXPRESSION REGULATION; GRANULOMATOUS DISEASE, CHRONIC; HALF-LIFE; HUMANS; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; NADPH OXIDASE; PHOSPHOPROTEINS; PROTEIN STABILITY; PROTEIN STRUCTURE, SECONDARY; REACTIVE OXYGEN SPECIES; RECOMBINATION, GENETIC; RNA STABILITY; RNA, MESSENGER; SEQUENCE DELETION;

EID: 75149118487     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21156     Document Type: Article

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