(Q34258677)

English

Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe). (English)

1 reference

Europe PubMed Central

31 July 2017

author name string

Morlé L

1

1 reference

Europe PubMed Central

31 July 2017

Roux AF

2

1 reference

Europe PubMed Central

31 July 2017

Alloisio N

3

1 reference

Europe PubMed Central

31 July 2017

Pothier B

4

1 reference

Europe PubMed Central

31 July 2017

Starck J

5

1 reference

Europe PubMed Central

31 July 2017

Denoroy L

6

1 reference

Europe PubMed Central

31 July 2017

Morlé F

7

1 reference

Europe PubMed Central

31 July 2017

Rudigoz RC

8

1 reference

Europe PubMed Central

31 July 2017

Forget BG

9

1 reference

Europe PubMed Central

31 July 2017

Delaunay J

10

1 reference

Europe PubMed Central

31 July 2017

language of work or name

0 references

publication date

1 August 1990

1 reference

Europe PubMed Central

31 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

31 July 2017

86

1 reference

Europe PubMed Central

31 July 2017

548-554

1 reference

Europe PubMed Central

31 July 2017

2

1 reference

Europe PubMed Central

31 July 2017

Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

A new abnormal variant of spectrin in black patients with hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Cloning of a portion of the chromosomal gene for human erythrocyte alpha-spectrin by using a synthetic gene fragment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

The membrane skeleton of human erythrocytes and its implications for more complex cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

[Hereditary elliptocytosis in West Africa: frequency and repartition of spectrin variants]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Three RFLPs are detected by an alpha spectrin genomic clone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

One-step amplification of transcripts in total RNA using the polymerase chain reaction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

Purification and Characterization of Proinsulin mRNA from Rat B-Cell Tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

6 July 2018

An optimized freeze-squeeze method for the recovery of DNA fragments from agarose gels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

28 October 2018

Sp alpha I/65: a new variant of the alpha subunit of spectrin in hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296759

28 October 2018

Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A structural model of human erythrocyte spectrin. Alignment of chemical and functional domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of human erythrocyte spectrin. I. Isolation of the alpha-I domain and its cyanogen bromide peptides

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defect of spectrin in the family of a child with congenital hemolytic poikilocytic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of hereditary red cell membrane defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and Laboratory Study of Two Caucasian Families with Hereditary Pyropoikilocytosis and Hereditary Elliptocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant]

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution

1 reference

https://pubmed.ncbi.nlm.nih.gov/2384601

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114743

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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