Karen Snow

TL;DR: The strong association of H63D with haemochromatosis might depend on the fact that patients who are compound heterozygotes—that is, C282Y/H63D, are at risk of developing clinically significant iron overload.

TL;DR: The APC variant E1317Q does not appear to be associated with increased risk for colorectal neoplasia in the general population, but when used normal colonoscopy controls, the prevalence of E1318Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC Patients with intact mismatch repair status, suggesting a possible role for E1316Q in coloreCTal tumorigenesis.

TL;DR: The results strongly suggest that the mutation detected by Ox1.9 is closely associated with the cytogenetic and clinical expression of fra (X) syndrome, and the use of this probe along with other probe/enzyme combinations should provide a sensitive clinical assay for the detection of carriers.

TL;DR: In this article, a study was conducted to correlate variations of the molecular cytosine guanines guanine (CGG) amplification in the fragile X mental retardation-1 (FMR-1) gene with the clinical findings, including IQ and physical features.

TL;DR: A novel mutation at α66(E15)Leu → Pro (α2) (CTG → CCG), that is named Hb Dartmouth for the medical center at which the patients were cared for, is reported in monozygotic twins who also inherited the Southeast Asian α-thalassemia-1 deletion.