Predicted pathogenic missense mutation of PGRN found in a normal control.
Kim
Han-Joon
HJ
Seong
Moon-Woo
MW
Yun
Ji Young
JY
Park
Sung Sup
SS
Lee
Jee-Young
JY
Jeon
Beom S
BS
D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D015984:Causality; D004252:DNA Mutational Analysis; D057174:Frontotemporal Lobar Degeneration / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009483:Neuropsychological Tests; D020734:Parkinsonian Disorders / Q000235:genetics; D019683:Penetrance; D000077153:Progranulins; D015203:Reproducibility of Results; D056910:Republic of Korea
C492314:GRN protein, human; D005819:Genetic Markers; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins