A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.

A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.

Item
http://www.wikidata.org/entity/Q30797179
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.Hereditary transthyretin amyloidosis from a Scandinavian perspective.Decreased clearance of serum retinol-binding protein and elevated levels of transthyretin in insulin-resistant ob/ob mice.Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosisTransthyretin-related familial amyloidotic polyneuropathy-Progress in Kumamoto, Japan (1967-2010)-.Inconsistency between hepatic expression and serum concentration of transthyretin in mice humanized at the transthyretin locus.Cavity filling mutations at the thyroxine-binding site dramatically increase transthyretin stability and prevent its aggregation.Amyloid deposition in ocular tissues of patients with familial amyloidotic polyneuropathy (FAP).A novel tool for detecting amyloid deposits in systemic amyloidosis in vitro and in vivo.A late-onset case of hereditary transthyretin amyloidosis with a novel compound heterozygous mutation.AbstractsR104H may suppress transthyretin amyloidogenesis by thermodynamic stabilization, but not by the kinetic mechanism characterizing T119 interallelic trans-suppressionA homozygote case of familial amyloid polyneuropathy amyloidgenic transthyretin Val30Met in a non-endemic areaA compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosisGenotype – phenotype correlation in FAP
P2860

A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.

Item
http://www.wikidata.org/entity/Q30797179
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A novel compound heterozygote ...... binding protein (RBP) levels.
@ast
A novel compound heterozygote ...... binding protein (RBP) levels.
@en
type
label
A novel compound heterozygote ...... binding protein (RBP) levels.
@ast
A novel compound heterozygote ...... binding protein (RBP) levels.
@en
prefLabel
A novel compound heterozygote ...... binding protein (RBP) levels.
@ast
A novel compound heterozygote ...... binding protein (RBP) levels.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
A novel compound heterozygote ...... l binding protein (RBP) levels
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698