Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid CancerAbsence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachDiagnosis and management of congenital dyserythropoietic anemias.Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.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
Q28115011-0CA1A6FD-79E8-49AB-8E17-6FDD9C01FC90Q34298053-80BC2AC0-EEA8-4ADF-9A76-8FB5033C1AE4Q38128556-2C31162B-1839-42A0-80B4-039E3FA9F654Q38664955-56314F54-F6D3-4D89-8B2C-7A00F3D3E7D0Q39547098-EDC8625C-3FEC-479B-AB7B-DDCE91501F49Q48251048-6C6FAADD-5A99-4950-A4E3-F79498A66E71Q49927544-57870045-133A-41B6-A9AE-D337B41C8F51Q53086702-4F670D5F-926B-4628-8A8E-03FABF3FF968
P2860
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
description
2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
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2013年论文
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2013年论文
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2013年论文
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name
Hypomorphic mutations of SEC23 ...... serythropoietic anemia type II
@en
type
label
Hypomorphic mutations of SEC23 ...... serythropoietic anemia type II
@en
prefLabel
Hypomorphic mutations of SEC23 ...... serythropoietic anemia type II
@en
P2093
P2860
P50
P1476
Hypomorphic mutations of SEC23 ...... serythropoietic anemia type II
@en
P2093
Achille Iolascon
Antonella Gambale
Concetta Langella
Elizabeth Yang
Fara Vallefuoco
Francesco Vitiello
P2860
P356
10.1016/J.BCMD.2013.02.003
P577
2013-03-01T00:00:00Z