Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.
about
Diagnosis and management of congenital dyserythropoietic anemias.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.Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
P2860
Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.
description
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name
Homozygosity mapping reveals f ...... erythropoietic anemia type II.
@en
Homozygosity mapping reveals f ...... erythropoietic anemia type II.
@nl
type
label
Homozygosity mapping reveals f ...... erythropoietic anemia type II.
@en
Homozygosity mapping reveals f ...... erythropoietic anemia type II.
@nl
prefLabel
Homozygosity mapping reveals f ...... erythropoietic anemia type II.
@en
Homozygosity mapping reveals f ...... erythropoietic anemia type II.
@nl
P2093
P2860
P356
P1433
P1476
Homozygosity mapping reveals f ...... erythropoietic anemia type II.
@en
P2093
B Singleton
P Malhotra
R K Marwaha
P2860
P304
P356
10.1111/CGE.12527
P577
2014-11-22T00:00:00Z