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Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model

Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5031259

Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model

About this item

Full title

Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model

Publisher

England: BioMed Central Ltd

Journal title

Genome medicine, 2016-09, Vol.8 (1), p.94-94, Article 94

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Tuberous sclerosis complex (TSC) is a genetic disease characterized by benign tumor growths in multiple organs and neurological symptoms induced by mTOR hyperfunction. Because the molecular pathology is highly complex and the etiology poorly understood, we employed a defined human neuronal model with a single mTOR activating mutation to dissect the...

Alternative Titles

Full title

Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5031259

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5031259

Other Identifiers

ISSN

1756-994X

E-ISSN

1756-994X

DOI

10.1186/s13073-016-0347-3

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