Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. (Q34462422)

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15 February 2020

title

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

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congenital dyserythropoietic anemia

15 February 2020

main subject

congenital disorder

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congenital dyserythropoietic anemia type II

inferred from title

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1

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15 February 2020

Maria Rosaria Esposito

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15 February 2020

Ramazan Asci

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15 February 2020

Silverio Perrotta

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author name string

Antonella Gambale

4

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15 February 2020

Ugo Ramenghi

6

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15 February 2020

Gian Luca Forni

7

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15 February 2020

Vedat Uygun

8

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15 February 2020

Jean Delaunay

9

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15 February 2020

Achille Iolascon

10

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publication date

1 December 2010

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American Journal of Hematology

15 February 2020

published in

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volume

85

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issue

12

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page(s)

915-920

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

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3015065

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.

6 July 2018

1 reference

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

6 July 2018

1 reference

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Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

6 July 2018

1 reference

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Dynamics of the COPII coat with GTP and stable analogues

6 July 2018

1 reference

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Prediction of deleterious human alleles

6 July 2018

1 reference

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Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

6 July 2018

1 reference

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Requirement for a GTPase-activating protein in vesicle budding from the endoplasmic reticulum

6 July 2018

1 reference

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Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene

6 July 2018

1 reference

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Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II.

27 October 2018

1 reference

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ESyPred3D: Prediction of proteins 3D structures

27 October 2018

1 reference

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The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum

27 October 2018

1 reference

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Hereditary Erythroblastic Multinuclearity Associated with a Positive Acidified-Serum Test: a Type of Congenital Dyserythropoietic Anaemia

27 October 2018

1 reference

12 December 2020

Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow

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12 December 2020

Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis

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12 December 2020

Congenital dyserythropoietic anaemia type II (HEMPAS): characterization of aberrant intracellular organelles by immunogold electron microscopy

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12 December 2020

Congenital dyserythropoietic anemias

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12 December 2020

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

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12 December 2020

Identifiers

DOI

10.1002/AJH.21866

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15 February 2020

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15 February 2020

PubMed publication ID

20941788

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