Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Item
http://www.wikidata.org/entity/Q34462422
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.Two 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 erythropoiesisInherited hematological disorders due to defects in coat protein (COP)II complex.Congenital 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.Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.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.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

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Item
http://www.wikidata.org/entity/Q34462422
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@ast
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@en
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@nl
type
label
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@ast
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@en
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@nl
prefLabel
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@ast
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@en
Mutational spectrum in congeni ...... novel variants in SEC23B gene.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Mutational spectrum in congeni ...... novel variants in SEC23B gene
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932