… describing these mutations, however, no data is available from the Central and Eastern
European region. In this study we present a detailed genetic analysis of our 30 patients, …

… Genetic analysis in PA patients referred to … novel mutations in the PCCA gene and 14 in
the PCCB gene and provide expression data and structural analysis for the missense mutations, …

… in the genetic analysis of diabetic patients after more functional studies are performed. …
We determined that this novel mutation affects the DNA-binding capacity of the mutant HNF1A …

… of this study was to perform DNA sequence analysis of patients with … Heterozygous carriers
of these novel mutations were … found that patients heterozygous for the Arg16Cys mutation …

… Two rare novel mutations (−67delT and a c.253-1879A>G … patients and relatives after
obtaining their signed informed consent. Written consent for DNA analysis of samples from patients…

… study, we attempted to identify the CSF1R mutations in patients who were referred to our
institute for genetic analysis… By this analysis, we found novel and previously reported CSF1R …

… for mutations causing HI.9 In the present study, we have identified and functionally
characterized the sixteenth naturally occurring GCK activating mutation reported to date (p.Trp99Cys), …

… analysis was performed to investigate the functional effects of two novel mutations detected
in this study… mental retardation, while the patient carrying novel mutation p. I282M presented …

… The aim of this study was to identify novel mutations in the LPL gene causing type 1
hyperlipoproteinemia and to understand the molecular mechanisms underlying the severe …

… a novel mutation in the GLA gene, the evaluation of his family, and the functional characterization
of the novel … The genetic analysis confirmed the presence of the variant p.Asn34Asp in …