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A novel germline mutation at exon 7 of the MSH2 gene (1249delG) in a large HNPCC Brazilian kindred

✍ Scribed by Cassandra M. Corvello; Roberta A.U. Bevilacqua; Benedito M. Rossi; Andrew J.G. Simpson


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
13 KB
Volume
13
Category
Article
ISSN
1059-7794

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Identification of a novel mutation (A268
✍ Pascal Jézéquel; Isabelle Guilhem; Jean Pierre Hespel; André Le Treut; Jean Yves 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB

## 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