Title: | A G+1 A transversion at the 5'splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient |
Journal : | Human molecular genetics, 4, 11 |
Authors: | Comi GP ; Ciafaloni E ; de Silva HAR ; Prelle A ; Bardoni A ; Rigoletto C ; Robotti M ; Bresolin N ; Moggio M ; Fortunato F ; Ciscato P ; Turconi A ; Rose AD ; Scarlato G |
Material Type: | Article |
Publication Date: | 1995 |
Size: | p.2171-2174 |
Languages: | English |
Keywords : | alternative splicing ; Becker muscular dystrophy ; Duchenne muscular dystrophy ; dystrophin ; genetics ; isoforms ; messenger RNA |