Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
about
Identification of biologically relevant enhancers in human erythroid cells.Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.Grsf1-induced translation of the SNARE protein Use1 is required for expansion of the erythroid compartmentTwo founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian populationThe COPII pathway and hematologic diseaseSEC23B is required for the maintenance of murine professional secretory tissues.Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type IICharacteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesisCongenital dyserythropoietic anaemias: new acquisitionsInherited hematological disorders due to defects in coat protein (COP)II complex.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachCongenital dyserythropoietic anemia in China: a case report from two families and a review.Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases.Diagnosis and management of congenital dyserythropoietic anemias.Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report.Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship.Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis.Peripheral marginalisation of endoplasmic reticulum membranes in cultured erythroblasts of congenital dyserythropoietic anaemia type II.Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.
P2860
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P2860
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Molecular analysis of 42 patie ...... notype-phenotype relationship.
@ast
Molecular analysis of 42 patie ...... notype-phenotype relationship.
@en
type
label
Molecular analysis of 42 patie ...... notype-phenotype relationship.
@ast
Molecular analysis of 42 patie ...... notype-phenotype relationship.
@en
prefLabel
Molecular analysis of 42 patie ...... notype-phenotype relationship.
@ast
Molecular analysis of 42 patie ...... notype-phenotype relationship.
@en
P2093
P2860
P1433
P1476
Molecular analysis of 42 patie ...... enotype-phenotype relationship
@en
P2093
Achille Iolascon
Carmelo Piscopo
Jean Delaunay
Loïc Garçon
Madeleine Fénéant-Thibault
Roberta Asci
Silverio Perrotta
P2860
P304
P356
10.3324/HAEMATOL.2009.014985
P577
2009-12-16T00:00:00Z