RT Journal Article
SR Electronic
T1 Alpha1-antitrypsin deficiency with M-like phenotype.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 183
OP 186
DO 10.1136/jmg.14.3.183
VO 14
IS 3
A1 Kueppers, F
A1 Utz, G
A1 Simon, B
YR 1977
UL http://jmg.bmj.com/content/14/3/183.abstract
AB A patient with a low serum concentration of alpha1-antitrypsin (0-1 g/l) but with an M-like phenotype is described. Her parents and 2 sibs have a PIM phenotype, but all except the father have approximately half-normal levels of alpha1-antitrypsin: The M-like variant apparently cannot be distinguished from M-alpha1-antitrypsin, when it occurs with M in heterozygotes. The proposita has severe airways obstruction and emphysema, and her father has moderate chronic obstructive pulmonary disease. The mother and 2 sibs are healthy.