A DYSFUNCTIONAL C1 INHIBITOR PROTEIN WITH A NEW REACTIVE CENTER MUTATION (ARG-444-]LEU)

被引：25

作者：

FRANGI, D

AULAK, KS

CICARDI, M

HARRISON, RA

DAVIS, AE

机构：

[1] CHILDRENS HOSP RES FDN,DIV NEPHROL,ELLAND & BETHESDA AVE,CINCINNATI,OH 45229

[2] UNIV MILANO,OSPED S PAOLO,MED CLIN 5,I-20142 MILAN,ITALY

[3] MRC,MRC,MOLEC IMMUNOPATHOL UNIT,CAMBRIDGE CB2 2QH,ENGLAND

来源：

FEBS LETTERS | 1992年 / 301卷 / 01期

关键词：

C1; INHIBITOR; HEREDITARY ANGIONEUROTIC EDEMA; SERPIN; POINT MUTATION; PLASMA PROTEINASE INHIBITOR;

D O I：

10.1016/0014-5793(92)80204-T

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A P1 mutation (Arg-444 --> Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC --> CTC) (by sequence analysis of PCR-amplified DNA).

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页码：34 / 36

页数：3

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