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Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy

✍ Scribed by Brenda Gerull; John Atherton; Anke Geupel; Sabine Sasse-Klaassen; Arnd Heuser; Michael Frenneaux; Mark McNabb; Henk Granzier; Siegfried Labeit; Ludwig Thierfelder

Publisher: Springer
Year: 2006
Tongue: English
Weight: 207 KB
Volume: 84
Category: Article
ISSN: 0946-2716
DOI: 10.1007/s00109-006-0060-6

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## MUTATION NOTES PCR-SSCP and the protein truncation test (PTT), which utilises in v i m transcription-translation to detect mutations that result in the introduction of a permature stop codon and thus to a truncated protein (van der Luijt et al., 1994). Exons 1-14 of the APC gene were PCR amplif