<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Roos, Dirk</style></author><author><style face="normal" font="default" size="100%">Kuhns, Douglas B</style></author><author><style face="normal" font="default" size="100%">Maddalena, Anne</style></author><author><style face="normal" font="default" size="100%">Bustamante, Jacinta</style></author><author><style face="normal" font="default" size="100%">Kannengiesser, Caroline</style></author><author><style face="normal" font="default" size="100%">de Boer, Martin</style></author><author><style face="normal" font="default" size="100%">van Leeuwen, Karin</style></author><author><style face="normal" font="default" size="100%">Köker, M Yavuz</style></author><author><style face="normal" font="default" size="100%">Wolach, Baruch</style></author><author><style face="normal" font="default" size="100%">Roesler, Joachim</style></author><author><style face="normal" font="default" size="100%">Malech, Harry L</style></author><author><style face="normal" font="default" size="100%">Holland, Steven M</style></author><author><style face="normal" font="default" size="100%">Gallin, John I</style></author><author><style face="normal" font="default" size="100%">Stasia, Marie-José</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).</style></title><secondary-title><style face="normal" font="default" size="100%">Blood Cells Mol Dis</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Blood Cells Mol. Dis.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Amino Acid Substitution</style></keyword><keyword><style  face="normal" font="default" size="100%">Codon, Nonsense</style></keyword><keyword><style  face="normal" font="default" size="100%">Genes, Recessive</style></keyword><keyword><style  face="normal" font="default" size="100%">Granulomatous Disease, Chronic</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation, Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">NADPH Oxidase</style></keyword><keyword><style  face="normal" font="default" size="100%">Point Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Pseudogenes</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA Splice Sites</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Deletion</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">04/2010</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">44</style></volume><pages><style face="normal" font="default" size="100%">291-9</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular pathogen killing by phagocytic leukocytes. Four of the five genes involved in CGD are autosomal; these are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox. This article lists all mutations identified in these genes in the autosomal forms of CGD. Moreover, polymorphisms in these genes are also given, which should facilitate the recognition of future disease-causing mutations.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/20167518?dopt=Abstract&lt;/p&gt;
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