Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.
Kazumitsu
K
Sugiura
Takuya
T
Takeichi
Michihiro
M
Kono
Yasuki
Y
Ito
Yasushi
Y
Ogawa
Yoshinao
Y
Muro
Masashi
M
Akiyama
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000235:genetics; D002647:Chilblains / Q000235:genetics* / Q000473:pathology; D005090:Exodeoxyribonucleases / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008178:Lupus Erythematosus, Cutaneous / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010750:Phosphoproteins / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D012720:Severity of Illness Index
D000596:Amino Acids; D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1