(Q44074993)

English

Compound heterozygosity for a β∘-thalassemia (frameshift codons 38/39; -C) and a nondeletional swiss type of HPFH (A→C at NT -110, Gγ) in a Czechoslovakian family

scientific article published on August 1, 1991

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Statements

scholarly article

1 reference

Europe PubMed Central

29 November 2017

Compound heterozygosity for a β∘-thalassemia (frameshift codons 38/39; -C) and a nondeletional swiss type of HPFH (A→C at NT -110, Gγ) in a Czechoslovakian family (English)

reason for preferred rank

most precise value

1 reference

10.1007/BF01707283

https://api.crossref.org/works/10.1007/BF01707283

7 November 2022

Compound heterozygosity for a beta zero-thalassemia (frameshift codons 38/39; -C) and a nondeletional Swiss type of HPFH (A----C at NT -110, G gamma) in a Czechoslovakian family (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

1 reference

based on heuristic

inferred from title

author name string

K. Indrak

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

J. Indrakova

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

F. Kutlar

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

D. Pospisilova

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

I. Sulovska

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

E. Baysal

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

T. H. Huisman

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1716997

7 November 2022

language of work or name

1 reference

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publication date

1 August 1991

1 reference

Europe PubMed Central

29 November 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF01707283.pdf

Portable Document Format

1 reference

10.1007/BF01707283

https://api.crossref.org/works/10.1007/BF01707283

7 November 2022

http://link.springer.com/article/10.1007/BF01707283/fulltext.html

1 reference

10.1007/BF01707283

https://api.crossref.org/works/10.1007/BF01707283

7 November 2022

http://link.springer.com/content/pdf/10.1007/BF01707283

1 reference

10.1007/BF01707283

https://api.crossref.org/works/10.1007/BF01707283

7 November 2022

Annals of Hematology

1 reference

Europe PubMed Central

29 November 2017

63

1 reference

Europe PubMed Central

29 November 2017

2

1 reference

Europe PubMed Central

29 November 2017

111-115

1 reference

Europe PubMed Central

29 November 2017

Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin

1 reference

https://api.crossref.org/works/10.1007%2FBF01707283

21 January 2018

High-performance liquid chromatographic separation of human haemoglobins. Simultaneous quantitation of foetal and glycated haemoglobins

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human CCAAT-binding proteins have heterologous subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

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/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal hemoglobin in normal adults and ?-thalassemia heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of base substitutions in the promoter regions of the A gamma- and G gamma-globin genes in A gamma- (or G gamma-) beta+-HPFH heterozygotes using the DNA-amplification-synthetic oligonucleotide procedure

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nature of fetal hemoglobin in the Greek type of hereditary persistence of fetal hemoglobin with and without concurrent beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel C-T transition within the distal CCAAT motif of the Gγ-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further Nodification of the Mtcrochromatographic Deternination of Hemoglobin A

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequence variation associated with elevated fetal G gamma globin production

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary persistence of fetal hemoglobin. Heterogeneity of fetal hemoglobin in homozygotes and in conjunction with -thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1716997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01707283

1 reference

Europe PubMed Central

29 November 2017

1 reference

Europe PubMed Central

29 November 2017

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