Association between the defective Pro369Ser mutation and in vivo intrahepatic 1-antitrypsin accumulation.
Seixas
S
S
Lopes
A I
AI
Rocha
J
J
Silva
L
L
Salgueiro
C
C
Salazar-de-Sousa
J
J
Batista
A
A
D000483:Alleles; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D007525:Isoelectric Focusing; D008099:Liver / Q000737:chemistry / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*
D000515:alpha 1-Antitrypsin