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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

✍ Scribed by Melanie M. Sohocki; Stephen P. Daiger; Sara J. Bowne; Joseph A. Rodriquez; Hope Northrup; John R. Heckenlively; David G. Birch; Helen Mintz-Hittner; Richard S. Ruiz; Richard A. Lewis; David A. Saperstein; Lori S. Sullivan


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
249 KB
Volume
17
Category
Article
ISSN
1059-7794

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Transcriptional expression of cis-acting
✍ María José Gamundi; Imma Hernan; Marta Muntanyola; Miquel Maseras; Pedro López-R 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 367 KB

## Communicated by Daniel F. Schorderet Two types of mutations may lead to deficient pre-mRNA splicing: cis-acting mutations that inactivate a constitutive or alternative splice site within the pre-mRNA, and trans-acting mutations that affect the function of a basal factor of the splicing machiner