PT  - JOURNAL ARTICLE
AU  - Kueppers, F
AU  - Utz, G
AU  - Simon, B
TI  - Alpha1-antitrypsin deficiency with M-like phenotype.
AID  - 10.1136/jmg.14.3.183
DP  - 1977 Jun 01
TA  - Journal of Medical Genetics
PG  - 183--186
VI  - 14
IP  - 3
4099  - http://jmg.bmj.com/content/14/3/183.short
4100  - http://jmg.bmj.com/content/14/3/183.full
SO  - J Med Genet1977 Jun 01; 14
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.