(Q74198338)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

main subject

hereditary spherocytosis

1 reference

based on heuristic

inferred from title

author name string

E Miraglia del Giudice

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Francese

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

B Nobili

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

L Morlé

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Cutillo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J Delaunay

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Perrotta

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

1 January 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

117-120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Dinucleotide repeat polymorphism at the human ankyrin gene (ANK1)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

De novo mutations producing unstable hemoglobins or hemoglobins M : I. Establishment of a Depository and use of data to test for an association of de novo mutation with advanced parental age.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

Recurrence risk for germinal mosaics revisited

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970495-0

10.1016/S0022-3476(98)70495-0

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9470011%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference