Banerjee, P. et al. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.
These events are mediated by the RING domain since a mutation in two of the cysteines abolishes ligase activity.
Mutation in two KTI isoforms led to a lower concentration of lunasin after PPH.
Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ & Tassone F. Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
Observation in both cfDNA and CTCs provides cross-validation for this mutation in two orthogonal sources of tumor DNA from the same tube of blood.
Researchers have found a genetic mutation in two people who need far less sleep than average, a discovery that might open the door to understanding human sleep patterns and lead to treatments for insomnia and other sleep disorders.
We describe for the first time a novel double de novo mutation in two adjacent codons resulting in two amino acid changes E74D and H75Y in the ACTA1 gene.
Shirvani-Dastgerdi E, Winer BY, Celia-Terrassa A, Kang Y, Tabernero D, Yagmur E, et al. Selection of the highly replicative and partially multidrug resistant rtS78T polymerase mutation in two patients with chronic hepatitis B virus infection during tenofovir-entecavir combination therapy.
Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy.
Escayg et al. [34] identified the same mutation in two patients with juvenile myoclonic epilepsy and emphasized that this mutation interrupts a consensus site for protein kinase A, which is conserved in the four major sodium channel of the central nervous system.
Recovery of the plaque forming phenotype was not associated with any dominant mutation in two out of six populations at passage 2 (V3andnd V15 9A).
