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A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma

✍ Scribed by Javier Alonso; Purificación García-Miguel; José Abelairas; Angel Pestaña


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
11 KB
Volume
15
Category
Article
ISSN
1059-7794

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✍ Pascal Jézéquel; Isabelle Guilhem; Jean Pierre Hespel; André Le Treut; Jean Yves 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB 👁 1 views

## 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