𝔖 Bobbio Scriptorium
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The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

✍ Scribed by Kristina Forsman; Caroline Graff; Stefan Nordström; Kent Johansson; Eleonora Westermark; Erik Lundgren; Karl-Henrik Gustavson; Claes Wadelius; Gösta Holmgren


Book ID
115090313
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
392 KB
Volume
42
Category
Article
ISSN
0009-9163

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DNA analysis of a male propositus with ornithine transcarbamylase (OTC) deficiency documented an A-to-C substitution in position +4 of intron 1. No other abnormalities were observed in the OTC gene, or at 563 bp upstream of the 5' site, which included a promoter region, or at 383 bp downstream of th