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10.1016/j.bcmd.2010.01.009 http://scihub22266oqcxt.onion/10.1016/j.bcmd.2010.01.009 C4568122!4568122 !20167518     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=20167518 &cmd=llinks): Failed to open stream: HTTP request failed! 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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) |pdf=|usr=}}{{20167518 }} gab.com Text Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) JO: Blood Cells Mol Dis http://www.kidney.de/pget.php?&tw=1&pmid=20167518 #FOAvip 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. Twit Text FOAVip Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) ????Blood Cells Mol Dis http://www.kidney.de/pget.php?&tw=1&pmid=20167518 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20167518 #FOAvip English Wikipedia <ref>{{Cite pmid|20167518 }}</ref> Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) #MMPMID20167518 Roos D ; Kuhns DB ; Maddalena A ; Bustamante J ; Kannengiesser C ; de Boer M ; van Leeuwen K ; Köker MY ; Wolach B ; Roesler J ; Malech HL ; Holland SM ; Gallin JI ; Stasia MJ Blood Cells Mol Dis 2010[Apr]; 44 (4 ): 291-9 PMID20167518 show ga 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. |*Genes, Recessive [MESH] |*Mutation [MESH] |*Polymorphism, Genetic [MESH] |Amino Acid Substitution [MESH] |Codon, Nonsense [MESH] |Granulomatous Disease, Chronic/enzymology/*genetics [MESH] |Humans [MESH] |Mutation, Missense [MESH] |NADPH Oxidases/*genetics [MESH] |Point Mutation [MESH] |Pseudogenes [MESH] |RNA Splice Sites/genetics [MESH]Hematologically important mutations: the autosomal recessive forms of (epmc).pdf DeepDyve Pubget Overpricing