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.
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A 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)Disruption of spectrin-like cytoskeleton in differentiating keratinocytes by PKCδ activation is associated with phosphorylated adducin.Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemiaBeta-spectrinBari: a truncated beta-chain responsible for dominant 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.
P2860
Q28116267-2AE9E0E4-76B3-4F83-8C88-D288F18E10F4Q34098166-E97F75CE-165C-4596-B4E5-CC3C12AF763BQ37361483-36DF3F96-BB09-411E-BE63-34E0BA9FA42EQ37470915-0C90A56F-CCE2-45E5-B9E2-A739A4129597Q40769443-41EC34D0-41EA-44BF-B5E6-0C8107CC28E2Q47684174-48D8C33F-FA24-46B3-A6AA-C7F344DB322EQ48020579-9B7C7619-0FC6-4964-A58F-D3FAEFA052F5
P2860
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.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Molecular basis of spectrin de ...... e in hereditary spherocytosis.
@ast
Molecular basis of spectrin de ...... e in hereditary spherocytosis.
@en
type
label
Molecular basis of spectrin de ...... e in hereditary spherocytosis.
@ast
Molecular basis of spectrin de ...... e in hereditary spherocytosis.
@en
prefLabel
Molecular basis of spectrin de ...... e in hereditary spherocytosis.
@ast
Molecular basis of spectrin de ...... e in hereditary spherocytosis.
@en
P2093
P2860
P356
P1476
Molecular basis of spectrin de ...... e in hereditary spherocytosis.
@en
P2093
J N Vassiliadis
S S Winter
P2860
P304
P356
10.1172/JCI118327
P407
P577
1995-12-01T00:00:00Z