alpha(1)-Antitrypsin deficiency as a result of compound heterozygosity for the Z and M(Heerlen) alleles.
Klaassen
C H
CH
de Metz
M
M
van Aarssen
Y
Y
Janssen
J
J
D000328:Adult; D004646:Emphysema / Q000235:genetics / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism
D000515:alpha 1-Antitrypsin