E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.
about
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 populationCharacteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesisCongenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis.Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.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
Q34298053-E1D49171-F449-4E09-9138-D89D621A4C25Q34306088-FAB7EEA1-84F5-4379-A693-F27ED307693EQ35673470-BAF54703-E7E9-4613-96D2-9EF22A6065EAQ37273213-EBD98A8F-5E20-44EE-8125-01CF32B76A85Q40762384-DA52F869-D289-4BD6-8816-A1D868B4240CQ48251048-CA9C5923-E227-4464-ABE0-1E14F1C5484FQ48325698-66DE0D5C-F286-4FE6-91AA-33BA78B3B607Q48762756-A7CDCB6E-8ADA-4FC9-A763-7E0C2193C11CQ52723154-850F0868-A07F-4D93-ABBC-088288DF9863Q53086702-650A0767-EDFB-4554-B982-BFFBAFC3A4A1
P2860
E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
E109K is a SEC23B founder muta ...... erythropoietic anemia type II.
@en
type
label
E109K is a SEC23B founder muta ...... erythropoietic anemia type II.
@en
prefLabel
E109K is a SEC23B founder muta ...... erythropoietic anemia type II.
@en
P2093
P356
P1433
P1476
E109K is a SEC23B founder muta ...... erythropoietic anemia type II.
@en
P2093
Achiya Amir
Alain Berrebi
Hannah Tamary
Michael Bennett
Orly Dgany
Peretz Resnitzky
Ronit Mor-Cohen
Tanya Krasnov
P304
P356
10.1159/000322948
P577
2011-01-20T00:00:00Z