Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

Item
http://www.wikidata.org/entity/Q34170060
A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesiclesSpectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissuesA 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)Genetic disorders of the red cell membranesBeta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin.Interchain binding at the tail end of the Drosophila spectrin moleculeCombination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemiaBeta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.Spectrin: structure, function and disease.Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression
P2860

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

Item
http://www.wikidata.org/entity/Q34170060
description
1993 nî lūn-bûn
@nan
1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@ast
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@en
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@nl
type
label
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@ast
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@en
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@nl
prefLabel
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@ast
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@en
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
Beta spectrin kissimmee: a spe ...... ective binding to protein 4.1.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932