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A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

✍ Scribed by Valverde, Diana; Solans, Teresa; Grinberg, Daniel; Balcells, Susana; Vilageliu, Lluisa; Bay�s, M�nica; Chivelet, Pilar; Besmond, Claude; Goossens, Michel; Gonz�lez-Duarte, Roser; Baiget, Montserrat

Book ID: 118771707
Publisher: Springer
Year: 1996
Tongue: English
Weight: 494 KB
Volume: 97
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00218829

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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