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10.1002/humu.22856 http://scihub22266oqcxt.onion/10.1002/humu.22856 C4604052!4604052!26264460     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mutat 2015 ; 36 (11): 1048-51 Nephropedia Template TP {{tp|p=26264460|t=2015. Expanding the molecular and clinical phenotype of SSR4-CDG |pdf=|usr=}}{{26264460}} gab.com Text Expanding the molecular and clinical phenotype of SSR4-CDG JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26264460 #FOAvip Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole exome sequencing to identify causal variants in several affected individuals who had either an undifferentiated neurological disorder or unsolved CDG of unknown etiology based on abnormal transferrin glycosylation. We now report, eight affected males with either de novo (4) or inherited (4) loss of function mutations in SSR4. Western blot analysis revealed that the mutations caused a complete loss of SSR4 protein. In nearly all cases, the abnormal glycosylation of serum transferrin was only slightly above the accepted normal cutoff range. Twit Text FOAVip Expanding the molecular and clinical phenotype of SSR4-CDG ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26264460 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26264460 #FOAvip English Wikipedia <ref>{{Cite pmid|26264460}}</ref> Expanding the molecular and clinical phenotype of SSR4-CDG #MMPMID26264460 Ng BG; Raymond K; Kircher M; Buckingham KJ; Wood T; Shendure J; Nickerson DA; Bamshad MJ; Wong JT; Monteiro FP; Graham BH; Jackson S; Sparkes R; Scheuerle AE; Cathey S; Kok F; Gibson JB; Freeze HH Hum Mutat 2015[Nov]; 36 (11): 1048-51 PMID26264460show ga Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole exome sequencing to identify causal variants in several affected individuals who had either an undifferentiated neurological disorder or unsolved CDG of unknown etiology based on abnormal transferrin glycosylation. We now report, eight affected males with either de novo (4) or inherited (4) loss of function mutations in SSR4. Western blot analysis revealed that the mutations caused a complete loss of SSR4 protein. In nearly all cases, the abnormal glycosylation of serum transferrin was only slightly above the accepted normal cutoff range. äExpanding the molecular and clinical phenotype of SSR4-CDG (epmc).pdf DeepDyve Pubget Overpricing