(Q33829046)

English

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.

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

congenital disorder

0 references

congenital dyserythropoietic anemia

1 reference

based on heuristic

inferred from title

congenital dyserythropoietic anemia type II

1 reference

based on heuristic

inferred from title

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Maria Rosaria Esposito

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Achille Iolascon

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Roberta Asci

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Carmelo Piscopo

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Silverio Perrotta

6

1 reference

Europe PubMed Central

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15 January 2020

Madeleine Fénéant-Thibault

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Loïc Garçon

8

1 reference

Europe PubMed Central

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15 January 2020

Jean Delaunay

9

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15 January 2020

publication date

16 December 2009

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Europe PubMed Central

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15 January 2020

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

95

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15 January 2020

5

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Europe PubMed Central

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15 January 2020

708-715

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Insights into COPII coat nucleation from the structure of Sec23.Sar1 complexed with the active fragment of Sec31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Advances in the understanding of the congenital dyserythropoietic anaemias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Structure of the Sec23/24-Sar1 pre-budding complex of the COPII vesicle coat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Congenital dyserythropoietic anemias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2864375

29 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20015893

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20015893

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II

1 reference

https://pubmed.ncbi.nlm.nih.gov/20015893

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20015893

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3324/HAEMATOL.2009.014985

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20015893%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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