Characterization of the new alpha-1-antitrypsin-deficient PI M-type allele, PI M(vall d'hebron) (Pro(369)-->Ser).
Jardi
R
R
Department of Biochemistry, Hospital Universitario Valle Hebrón, Barcelona, Spain. rjardi@hg.vhebron.es
Rodriguez-Frias
F
F
Lopez-Talavera
J C
JC
Miravitlles
M
M
Cotrina
M
M
Costa
X
X
Pascual
C
C
Vidal
R
R
D000483:Alleles; D019943:Amino Acid Substitution; D006801:Humans; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics; D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics*
D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin; D012694:Serine; D011392:Proline