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Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants

Missense mutations result in full-length proteins containing an amino acid substitution that can be neutral or deleterious, interfering with the normal conformation, localization, and function of a protein. A striking example is the presence of CDH1 (E-cadherin gene) germline missense variants in he...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Sanches, João Miguel, Figueiredo, Joana, Fonseca, Martina, Durães, Cecília, Melo, Soraia, Esménio, Sofia, Seruca, Raquel
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795115/
https://ncbi.nlm.nih.gov/pubmed/25388006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.240
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