Results 111 to 120 of about 806,334 (155)

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay. [PDF]

Front Genet, 2020
Wang S, Wang Y, Wang J, Liu Z, Zhang R, Shi X, Han Y, Guo W, Bottillo I, Shao L.   +9 more
europepmc   +1 more source

A Flexible, Robust Microbead-based Assay for Quantification and Normalization of Target Protein Concentrations

, 2020
There are many methods for quantifying the concentration of a specific (target) protein in a sample, but current techniques are technically challenging or do not easily lend themselves to normalizing measured protein concentrations against the total ...
Crowley, Alexandra
core  

FIGLA Novel Variant c.385-9G>A Affects RNA Splicing in a Minigene Assay. [PDF]

Ann Hum Genet
Zhang Y, Hu J, Ren L, Li F, Zhang C, Liu J, You G, Feng Y, Huang S.   +8 more
europepmc   +1 more source

Functional Evaluation of PKD1 Intronic Variants by Minigene Assays

Kidney International Reports
Seon Hoo Youn, Boram Kim, Hayne Cho Park, Yong Chul Kim, Eun Hui Bae, Yun Kyu Oh, Joo won Jang, Seung Won Chae, Jee-Soo Lee, Moon-Woo Seong   +9 more
doaj   +1 more source

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay. [PDF]

BMC Med Genomics
Qiao D, Liu X, Bottillo I, Zhang R, Shao L.   +4 more
europepmc   +1 more source

Assessing the Functional Significance of Novel and Rare Variants of the <i>SLC26A4</i> Gene Found in Patients with Hearing Loss by Minigene Assay. [PDF]

Int J Mol Sci
Danilchenko VY, Panina EA, Zytzar MV, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

A novel splicing variant in <i>NBAS</i> identified by minigene assay causes infantile liver failure syndrome type 2. [PDF]

Front Genet
Hu A, Liang J, Liu H, Jiang J, Xie F, Zhang X, Zhou X.   +6 more
europepmc   +1 more source

Correction: A novel splicing variant in <i>NBAS</i> identified by minigene assay causes infantile liver failure syndrome type 2. [PDF]

Front Genet
Hu A, Liang J, Liu H, Jiang J, Xie F, Zhou X, Zhang X.   +6 more
europepmc   +1 more source

In vitro analysis of the effects of intronic variants c.940+3_940+6del, c.941-3C>G, and c.2389+5G>A in the LDLR gene on pre-mRNA splicing using a minigene assay. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Danilchenko VY, Ivanoshchuk DE, Timoshchenko OV, Panina EA, Orlov PS, Shakhtshneider EV.   +5 more
europepmc   +1 more source

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. [PDF]

Mol Genet Genomic Med
Zhang R, Lang Y, Shi X, Zhang Y, Liu X, Pan F, Qiao D, Teng X, Shao L.   +8 more
europepmc   +1 more source