A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema.
Feldmann
D
D
Laboratoire de Biochimie, Hopital A Trousseau, AP-HP, Paris, France. dfeldman@infobiogen.fr
Bard
M
M
Chauve
C
C
Couderc
R
R
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*
D000515:alpha 1-Antitrypsin