- Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropeniaKaan Boztug
Research Center for Molecular Medicine of the Austrian Academy of Sciences CeMM, Vienna, Austria
J Pediatr 160:679-683.e2. 2012..To delineate the phenotypic and molecular spectrum of patients with a syndromic variant of severe congenital neutropenia (SCN) due to mutations in the gene encoding glucose-6-phosphatase catalytic subunit 3 (G6PC3)...
- A novel mutation in the complement component 3 gene in a patient with selective IgA deficiencyElisangela Santos-Valente
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Lazarettgasse 14, AKH BT 25 3, A 1090, Vienna, Austria
J Clin Immunol 33:127-33. 2013..Immunological and molecular evaluation of a patient presenting with recurrent infections caused by Streptococcus pneumoniae and low complement component 3 (C3) levels...