Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. [electronic resource]
Producer: 20150915Description: 2051-60 p. digitalISSN:- 1524-4539
- Adolescent
- Adult
- Aged
- Carrier Proteins -- genetics
- Child
- Child, Preschool
- Defibrillators, Implantable
- Exome
- Female
- Frameshift Mutation
- Genes, Recessive
- Heart Arrest -- diagnosis
- Heterozygote
- Homozygote
- Humans
- Infant
- Long QT Syndrome -- diagnosis
- Male
- Middle Aged
- Muscle Proteins -- genetics
- Pedigree
- Phenotype
- Sequence Analysis, DNA
- Sympathectomy
- Syncope -- diagnosis
- Syndrome
- Treatment Outcome
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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