A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
North
K N
KN
Yang
N
N
Wattanasirichaigoon
D
D
Mills
M
M
Easteal
S
S
Beggs
A H
AH
D000185:Actinin / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D018389:Codon, Nonsense; D018388:Codon, Terminator; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics; D005787:Gene Frequency; D005828:Genetics, Population; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D015810:Linkage Disequilibrium; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation; D009468:Neuromuscular Diseases / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
C118456:ACTN3 protein, human; D018389:Codon, Nonsense; D018388:Codon, Terminator; D020033:Protein Isoforms; D000185:Actinin; C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific