point mutation - Robuta Search

https://profiles.wustl.edu/en/publications/point-mutation-in-the-exoplasmic-domain-of-the-erythropoietin-rec/ Point mutation in the exoplasmic domain of the erythropoietin receptor resulting in... point mutation domain erythropoietin receptor resulting https://pmc.ncbi.nlm.nih.gov/articles/PMC15035/ A Point Mutation in the Transmembrane Domain of the Hemagglutinin of Influenza Virus Stabilizes a... A hemagglutinin (HA) of influenza virus having a single semiconserved Gly residue within the transmembrane domain mutated to Leu (G520L) was expressed on... a point https://pmc.ncbi.nlm.nih.gov/articles/PMC110767/ A pathogenic point mutation reduces stability of mitochondrial mutant tRNAIle - PMC Point mutations in mitochondrial tRNA genes are responsible for individual subgroups of mitochondrial encephalomyopathies. We have recently reported that point... point mutation pathogenic reduces https://scholarworks.uvm.edu/items/8c5baad8-0660-4d4c-b788-b42f788eb7f0 Characterization Of A Pathological Tau Point Mutation, E342v, Implicated In Frontotemporal Dementia Frontotemporal Dementia (FTD) is classified as a Tauopathy, a group of heterogenous neurodegenerative disorders characterized by the abnormal functioning of a... of a point mutation https://scholars.cityu.edu.hk/en/publications/a-point-mutation-in-a-herpesvirus-co-determines-meuropathogenicit/ A Point Mutation in a Herpesvirus Co-Determines Meuropathogenicity and Viral Shedding - CityUHK... a point https://pubmed.ncbi.nlm.nih.gov/8027220/ Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency Genetic disorders in the gene encoding P450c17 cause 17 alpha-hydroxylase deficiency. The consequent defects in the synthesis of cortisol and sex steroids... https://agris.fao.org/search/en/providers/124416/records/6943c896f2f3b97244078275 Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in... https://rarediseases.info.nih.gov/diseases/17740/pura-related-severe-neonatal-hypotonia-seizures-encephalopathy-syndrome-due-to-a-point-mutation PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |... Find symptoms and other information about PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.