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.
Comi
G P
GP
Institute of Clinical Neurology, Dino Ferrari Center, University of Milano, Italy.
Ciafaloni
E
E
de Silva
H A
HA
Prelle
A
A
Bardoni
A
A
Rigoletto
C
C
Robotti
M
M
Bresolin
N
N
Moggio
M
M
Fortunato
F
F
D000225:Adenine; D001483:Base Sequence; D002648:Child; D004247:DNA; D016189:Dystrophin / Q000172:deficiency / Q000235:genetics*; D006147:Guanine; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D013497:Sural Nerve / Q000378:metabolism*
D016189:Dystrophin; D012333:RNA, Messenger; D006147:Guanine; D004247:DNA; D000225:Adenine