(Q42742478)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

hereditary pyropoikilocytosis

6 January 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Larisa Lozovatsky

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Patrick G Gallagher

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Bernard G Forget

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

language of work or name

English

0 references

publication date

8 September 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

4367-4369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16150946%20AND%20SRC:MED&resulttype=core&format=json

Hereditary elliptocytosis: spectrin and protein 4.1R.

6 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Erythroid expression of the human alpha-spectrin gene promoter is mediated by GATA-1- and NF-E2-binding proteins

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Killing the messenger: new insights into nonsense-mediated mRNA decay

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Denaturing high-performance liquid chromatography: A review

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Nonsense-mediated mRNA decay in health and disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Synthesis and assembly of membrane skeletal proteins in mammalian red cell precursors

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

The exon-intron organization of the human erythrocyte α-spectrin gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

A Congenital Haemolytic Anaemia with Thermal Sensitivity of the Erythrocyte Membrane

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895230

Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans

27 May 2018

1 reference

12 December 2020

Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis

1 reference

12 December 2020

Spectrin St Louis and the alpha LELY allele

1 reference

12 December 2020

Amino-acid substitution in alpha-spectrin commonly coinherited with nondominant hereditary spherocytosis

1 reference

12 December 2020

10.1182/BLOOD-2005-05-1813

Identifiers

DOI

1 reference

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30 July 2022

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Fatcat ID

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30 July 2022

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30 July 2022