Haemophilia B (sixth edition): a database of point mutations and short additions and deletions
about
The GDB Human Genome Database Anno 1997The role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancersSolution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1Polydom: a secreted protein with pentraxin, complement control protein, epidermal growth factor and von Willebrand factor A domainsThe factor IXa second epidermal growth factor (EGF2) domain mediates platelet binding and assembly of the factor X activating complex.Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.Blood coagulation factor IX residues Glu78 and Arg94 provide a link between both epidermal growth factor-like domains that is crucial in the interaction with factor VIII light chain.A mutation spectra database for bacterial and mammalian genes.A mutation spectra database for bacterial and mammalian genes: 1998.A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism.Clinical advances in hemophilia management.Residues 88-109 of factor IXa are important for assembly of the factor X activating complex.Haemophilia B: database of point mutations and short additions and deletions, 7th edition.Calcium binding to the first EGF-like module of human factor IX in a recombinant fragment containing residues 1-85. Mutations V46E and Q50E each manifest a negligible increase in calcium affinity.The factor IX gene as a model for analysis of human germline mutations: an update.Anaphylactoid reactions and nephrotic syndrome--a considerable risk during factor IX treatment in patients with haemophilia B and inhibitors: a report on the outcome in two brothers.Haemophilia B Brandenberg-type promoter mutation.Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly.A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1.Calcium stabilizes fibrillin-1 against proteolytic degradation.The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
P2860
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P2860
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Haemophilia B (sixth edition): ...... short additions and deletions
@ast
Haemophilia B (sixth edition): ...... short additions and deletions
@en
Haemophilia B
@nl
type
label
Haemophilia B (sixth edition): ...... short additions and deletions
@ast
Haemophilia B (sixth edition): ...... short additions and deletions
@en
Haemophilia B
@nl
prefLabel
Haemophilia B (sixth edition): ...... short additions and deletions
@ast
Haemophilia B (sixth edition): ...... short additions and deletions
@en
Haemophilia B
@nl
P2093
P2860
P921
P356
P1476
Haemophilia B (sixth edition): ...... short additions and deletions
@en
P2093
Brownlee GG
Giannelli F
Goossens M
Reitsma PH
Yoshioka A
P2860
P304
P356
10.1093/NAR/24.1.103
P407
P577
1996-01-01T00:00:00Z