title: A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema.
authors.affiliation: Laboratoire de Biochimie, Hopital A Trousseau, AP-HP, Paris, France. dfeldman@infobiogen.fr
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
authors.forename: M
authors.initials: M
authors.lastname: Bard
authors.forename: C
authors.initials: C
authors.lastname: Chauve
authors.forename: R
authors.initials: R
authors.lastname: Couderc
mesh_terms: D000328:Adult; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional / Q000235:genetics; D011030:Pneumothorax / Q000235:genetics; D011656:Pulmonary Emphysema / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin