Article

Hypomorphic mutation of the mouse Huntington’s disease gene orthologue

2018-10-15

Abstract excerpt

Rare individuals with hypomorphic inactivating mutations in the Huntington’s Disease (HD) gene ( HTT ), identified by CAG repeat expansion in the eponymous neurodegenerative disorder, exhibit variable abnormalities that imply HTT essential roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in Htt , the murine HTT orthologue (in Hdh neoQ20 , Hdh n...

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Literature Corpus work: aefb9bfa-06f8-5df8-ba72-6d224acb0479
DOI: 10.1101/444059

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