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Modelling human immune deficiency from novel missense mutations with orthologous heterozygous mutations engineered in mice by CRISPR/Cas9

Miraghazadeh, Bahar; Cardinez, Chelisa; da Silva, Elizabeth; Chand, Rochna; Davies, Ainsley; Burgio, Gaetan; Garcia De Vinuesa, Maria Carola; Cook, Matthew


Introduction/Background: Next generation sequencing has resulted in substantial progress in identification of Mendelian immune deficiency syndromes. In some cases, however, putative causal mutations occur in single kindreds, or even individual patients. Under these circumstances, functional analysis of patient derived cells combined with in vitro analysis of genetically manipulated cell lines can provide additional evidence in support of genetic causation, but this might not be...[Show more]

CollectionsANU Research Publications
Date published: 2018
Type: Conference paper
Source: Journal of Clinical Immunology


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