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Familial hypercholesterolemia class II low density lipoprotein-receptor response to statin treatment

Familial hypercholesterolemia class II low density lipoprotein-receptor response to statin treatment

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_34005042

Familial hypercholesterolemia class II low density lipoprotein-receptor response to statin treatment

About this item

Full title

Familial hypercholesterolemia class II low density lipoprotein-receptor response to statin treatment

Publisher

England

Journal title

Disease models & mechanisms, 2020-01

Language

English

Formats

Publication information

Publisher

England

More information

Scope and Contents

Contents

LDL receptor (LDLR) mutations are the primary cause of familial hypercholesterolemia (FH). Class II LDLR mutations result in a misfolded LDLR retained in the endoplasmic reticulum (ER). We have developed a model of FH class II and CRISPR corrected induced pluripotent stem cells (iPSC) capable of replicating mutant and repaired LDLR functions. We sh...

Alternative Titles

Full title

Familial hypercholesterolemia class II low density lipoprotein-receptor response to statin treatment

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmed_primary_34005042

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_34005042

Other Identifiers

E-ISSN

1754-8411

DOI

10.1242/dmm.042911

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