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Article

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2010

Blyth Moira, Raponi Michela, Treacy Rebecca, Raymond F Lucy, Yates John R W, Baralle Diana

Abstract excerpt

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Share to Mutagenesis, Insertional
Share to Reverse Transcriptase Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20185476
DOI: 10.1136/jnnp.2009.179689

Genes

TSC1

Provenance

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TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read ↗

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