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10.1002/humu.22563 http://scihub22266oqcxt.onion/10.1002/humu.22563 C4055522!4055522!24753205     free     free     free       Hum+Mutat 2014 ; 35 (7): 824-7 Nephropedia Template TP {{tp|p=24753205|t=2014. TCIRG1 associated Congenital Neutropenia |pdf=|usr=}}{{24753205}} gab.com Text TCIRG1 associated Congenital Neutropenia JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=24753205 #FOAvip Severe congenital neutropenia (SCN) is a rare hematopoietic disorder, with estimated incidence of 1 in 200,000 individuals of European descent, many cases of which are inherited in an autosomal dominant pattern. Despite the fact that several causal genes have been identified, the genetic basis for >30% of cases remains unknown. We report a five generation family segregating a novel single nucleotide variant (SNV) in TCIRG1. There is perfect co-segregation of the SNV with congenital neutropenia in this family; all 11 affected, but none of the unaffected, individuals carry this novel SNV. Western blot analysis show reduced levels of TCIRG1 protein in affected individuals, compared to healthy controls. Two unrelated patients with SCN, identified by independent investigators, are heterozygous for different, rare, highly conserved, coding variants in TCIRG1. Twit Text FOAVip TCIRG1 associated Congenital Neutropenia ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=24753205 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24753205 #FOAvip English Wikipedia <ref>{{Cite pmid|24753205}}</ref> TCIRG1 associated Congenital Neutropenia #MMPMID24753205 Makaryan V; Rosenthal EA; Bolyard AA; Kelley ML; Below JE; Bamshad MJ; Bofferding KM; Smith JD; Buckingham K; Boxer LA; Skokowa J; Welte K; Nickerson DA; Jarvik GP; Dale DC Hum Mutat 2014[Jul]; 35 (7): 824-7 PMID24753205show ga Severe congenital neutropenia (SCN) is a rare hematopoietic disorder, with estimated incidence of 1 in 200,000 individuals of European descent, many cases of which are inherited in an autosomal dominant pattern. Despite the fact that several causal genes have been identified, the genetic basis for >30% of cases remains unknown. We report a five generation family segregating a novel single nucleotide variant (SNV) in TCIRG1. There is perfect co-segregation of the SNV with congenital neutropenia in this family; all 11 affected, but none of the unaffected, individuals carry this novel SNV. Western blot analysis show reduced levels of TCIRG1 protein in affected individuals, compared to healthy controls. Two unrelated patients with SCN, identified by independent investigators, are heterozygous for different, rare, highly conserved, coding variants in TCIRG1. äTCIRG1 associated Congenital Neutropenia (epmc).pdf DeepDyve Pubget Overpricing