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Autosomal dominant retinitis pigmentosa: A mutation in codon 178 of the rhodopsin gene in two families of celtic origin

✍ Scribed by Jane Farrar, G.; Kenna, Paul; Redmond, Richard; Shiels, Denise; McWilliam, Peter; Humphries, Marian M.; Sharp, Elizabeth M.; Jordan, Siobhan; Kumar-Singh, Rajendra; Humphries, Peter


Book ID
123022041
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
819 KB
Volume
11
Category
Article
ISSN
0888-7543

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A novel null mutation in the rhodopsin g
✍ Beatriz SΓ‘nchez; Salud Borrego; Pedro Chaparro; Trinidad Rueda; Francisca LΓ³pez; πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 109 KB

Retinitis pigmentosa (RP) is the most common inherited retinal degeneration. A subset of patients with autosomal dominant (ad) RP carry a mutation in the rhodopsin gene. We have identified a new missense rhodopsin mutation. namely A346P, which cosegregates with the disease phenotype in one Spanish f