Literature citations
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant P-Duarte.
Hildesheim J.; Kinsley G.; Bissell M.; Pierce J.; Brantly M.;
Hum. Mutat. 2:221-228(1993)
Cited for: VARIANT P-DUARTE VAL-280;
Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256-->Val); PiM-Malton (Phe51-->deletion) and PiI (Arg39-->Cys).
Graham A.; Kalsheker N.A.; Newton C.R.; Bamforth F.J.; Powell S.J.; Markham A.F.;
Hum. Genet. 84:55-58(1989)
Cited for: VARIANTS P-CARDIFF VAL-280; I CYS-63 AND M-MALTON PHE-75 DEL;
Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI YBarcelona (Asp256Val and Pro391His).
Jardi R.; Rodriguez F.; Miravitlles M.; Vidal R.; Cotrina M.; Quer J.; Pascual C.; Weidinger S.;
Hum. Mutat. 12:213-213(1998)
Cited for: VARIANTS Y-BARCELONA VAL-280 AND HIS-415;
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