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Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations

Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_17630362

Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations

About this item

Full title

Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations

Publisher

United States: National Academy of Sciences

Journal title

Proceedings of the National Academy of Sciences - PNAS, 2005-06, Vol.102 (23), p.8089-8096

Language

English

Formats

Publication information

Publisher

United States: National Academy of Sciences

More information

Scope and Contents

Contents

Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. All TS individuals have syndactyly (webbing of fingers and toes). We discovered that TS resulted from a...

Alternative Titles

Full title

Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_17630362

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_17630362

Other Identifiers

ISSN

0027-8424

E-ISSN

1091-6490

DOI

10.1073/pnas.0502506102

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