Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families

scientific article published on 02 March 2012

Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1039015784
P356DOI10.1007/S10875-012-9667-2
P698PubMed publication ID22382877

P50authorVéronique SatreQ64623446
Charles CouttonQ62669671
P2093author name stringHarry Hill
Dirk Roos
Karin van Leeuwen
Martin de Boer
Carl T Wittwer
Gerard Michel
Marie José Stasia
Cecile Martel
Isabelle Thuret
Celine Hanson
Nancy H Augustine
Michele Mollin
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A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous diseaseQ74297952
Chronic granulomatous disease: the European experienceQ21143799
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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Q25938983
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A 40‐base‐pair duplication in the gp91‐phox gene leading to X‐linked chronic granulomatous diseaseQ28298632
Genetic, biochemical, and clinical features of chronic granulomatous disease.Q30168989
Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution meltingQ33813874
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reportsQ36402087
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).Q39768422
Severe Clinical Forms of Cytochromeb–Negative Chronic Granulomatous Disease (X91−) in 3 Brothers with a Point Mutation in the Promoter Region ofCYBBQ44660057
High-throughput analysis of the C4 polymorphism by a combination of MLPA and isotype-specific ELISA'sQ54504233
P433issue4
P921main subjectchronic granulomatous diseaseQ2165663
X-linked chronic granulomatous diseaseQ60195030
P304page(s)653-662
P577publication date2012-03-02
P1433published inJournal of Clinical ImmunologyQ6294961
P1476titleRare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families
P478volume32