point mutation - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/25054547/

Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of...

Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have...

point mutation characterization novel bche silent

https://pubmed.ncbi.nlm.nih.gov/37219662/

A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and...

The BAF (BRG1/BRM-associated factor) chromatin remodelling complex is essential for the regulation of DNA accessibility and gene expression during neuronal...

carboxy terminal point mutation induces hydrocephalus formation

https://incerebro.com/incerebro/index.php?pCode=publications&mode=del&idx=358

Publications - Delete(The point mutation of the cholesterol trafficking membrane protein NPC1 may...

the point publications delete mutation cholesterol

https://www.wikidata.org/wiki/Q28513283

Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand -...

scientific journal article

lymphoproliferative disease point mutation generalized mice caused

https://www.scirp.org/journal/paperinformation?paperid=51010

Point Mutation Analysis of PMP22 in Patients Referred for Hereditary Neuropathy with Liability to...

Discover the significance of PMP22 exon 5 sequencing analysis in diagnosing hereditary neuropathy. Uncover the prevalence of point mutations and the potential...

point mutation analysis patients hereditary

https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2023.884340/full

Frontiers | Pigs with an INS point mutation derived from zygotes electroporated with CRISPR/Cas9...

Just one amino acid at the carboxy-terminus of the B chain distinguishes human insulin from porcine insulin. By introducing a precise point mutation into the...

point mutation frontiers pigs ins derived