Dysfunctions of the Cystic Fibrosis Transmembrane conductance regulator (CFTR) gene are responsible for the highly variable clinical presentation ranging from severe Cystic Fibrosis to male infertility due to congenital bilateral absence of the vas deferens (CBAVD). Despite extensive scanning, a small proportion of the CFTR mutations remains unidentified. We performed the functional analyses of a […]
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Modeling the genetic risk prediction of type 1 diabetes
Modeling the genetic risk prediction of type 1 diabetes Matthew Tien1 and Hui-Qi Qu2 1 University of Texas at Austin, School of Biological Sciences; 2 University of Texas Health Science Center Houston, School of Public Health Genome-Wide Association Studies (GWAS) perform genome-wide analysis of individuals to screen for single nucleotide polymorphisms (SNP); such studies […]
Genetic issues in BCG Vaccination
Disseminated BCG infection is a genetic disease, caused by a mutation in one of the specific genes involved in the immune response to mycobacterial infection. […]
Welcome to JMG Contact
The editorial team of the Journal of Medical Genetics has set up this virtual space as a communications tool that, we hope, will bring us closer to our public. Ten years ago I would have said “closer to our readership”; but the technological and conceptual developments of the past decade warrant some stepping back and […]