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A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20

✍ Scribed by J. Dedic; A.S. Weiss; J. Katahira; B. Yu; R.J. Trent; Z. Urbán

Book ID: 101345118
Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 10 KB
Volume: 17
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(2001)17:1<81::aid-humu30>3.0.co;2-x

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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