Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

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Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Congenital dyserythropoietic a ...... t with SEC23B-Y462C mutations.

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Congenital dyserythropoietic a ...... t with SEC23B-Y462C mutations.

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Congenital dyserythropoietic a ...... t with SEC23B-Y462C mutations.

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Congenital dyserythropoietic a ...... t with SEC23B-Y462C mutations.

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Congenital dyserythropoietic a ...... t with SEC23B-Y462C mutations.

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Congenital dyserythropoietic a ...... t with SEC23B-Y462C mutations.

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P1476

Congenital dyserythropoietic a ...... t with SEC23B-Y462C mutations.

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Manisha Madkaikar

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Prabhakar Kedar

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Prashant Warang

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Rati Devendra

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Vaishali Parmar

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Vinod Gupta

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P2860

The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope

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.

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics.

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

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells

Experience with eosin-5'-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders.

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2135-2139

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scholarly article

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10.1007/S00277-017-3116-5

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P478

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2017-09-07T00:00:00Z

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28879554

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P921

India