Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema
about
A targeted apolipoprotein B-38.9-producing mutation causes fatty livers in mice due to the reduced ability of apolipoprotein B-38.9 to transport triglyceridesCrucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodemaA mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.C1-inhibitor and its genetic alterations in hereditary angioneurotic edema.Human gene mutations affecting RNA processing and translation.
P2860
Q28507306-4517151F-755F-4887-870C-18027115410FQ34195958-901A0A5E-9608-4B3C-B923-0E581ACD327CQ34266118-B4BF5654-6B02-4D6F-A27F-78AE30D22C0DQ35881940-E935B412-E4A6-4F69-BF15-36D7E0DA08A5Q36437568-75E9DEE5-A8DB-4B13-85B7-EEE7B353652CQ40829855-171FCE8F-2E10-40DA-8C7B-97E3CB4F8AF2Q40877247-03E17E42-ED6C-4CB6-9225-EB3186FD36B0
P2860
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@ast
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@en
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@nl
type
label
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@ast
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@en
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@nl
prefLabel
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@ast
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@en
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@nl
P2093
P2860
P356
P1476
Nonsense mutations affect C1 i ...... hereditary angioneurotic edema
@en
P2093
P2860
P356
10.1172/JCI115373
P407
P577
1991-09-01T00:00:00Z