A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.897
Abstract: Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and neural systems. read more here.
Keywords: frameshift mutation; heterozygous frameshift; identified bcl11b; mutation identified ... See more keywords
A novel A allele with c.689G>T mutation identified in a Chinese individual
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DOI: 10.1111/trf.14803
Abstract: A BO is the most important blood group system in both transfusion and transplantation medicine. Subgroups are defined by weakly expressed A or B antigen, respectively, and result in typing anomalies. Since the discovery of… read more here.
Keywords: identified chinese; 689g mutation; novel allele; allele 689g ... See more keywords
A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Dermatology"
DOI: 10.1684/ejd.2018.3354
Abstract: 553 including penicillin. Several studies have reported penicillin resistance rates from 12 to 27% [1, 7]. In our study, eight patients (34.8%) showed resistance to some antibiotics, and penicillin was the antibiotic for which more… read more here.
Keywords: wrn mutation; novel wrn; resistance; identified patient ... See more keywords