Alpha-1-antitrypsin deficiency in a large sibship.

doi:10.1159/000195862

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Article

Alpha-1-antitrypsin deficiency in a large sibship.

Respiration; international review of thoracic diseases - 1 Jan 1990

Apprill M, North M L, Mirhom R, Weitzenblum E

Abstract excerpt

We studied alpha 1-antitrypsin deficiency in a large family of 10 siblings: 3 subjects had PiZZ phenotype, but only 1 had emphysema; 2 subjects had no respiratory complaint. The patient with emphysema was a heavy smoker. According to the literature, this case suggests that, in PiZZ phenotype, emp...

Topics

Adult
Consanguinity
Humans
Male
Pedigree
Phenotype
Pulmonary Emphysema
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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