(Q43580920)

English

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of ?-thalassaemia in the Portuguese population

scientific article published on July 1, 1992

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

24 November 2017

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of ?-thalassaemia in the Portuguese population (English)

reason for preferred rank

most precise value

1 reference

10.1007/BF00219188

https://api.crossref.org/works/10.1007/BF00219188

18 October 2022

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population (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%3A1634236

18 October 2022

1 reference

10.1007/BF00219188

https://api.crossref.org/works/10.1007/BF00219188

18 October 2022

1

object named as

P. Faustino

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634236

18 October 2022

5

object named as

J. Gonçalves

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634236

18 October 2022

author name string

L. Osório-Almeida

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%3A1634236

18 October 2022

J. Barbot

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%3A1634236

18 October 2022

D. Espírito-Santo

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%3A1634236

18 October 2022

L. Romão

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%3A1634236

18 October 2022

M. C. Martins

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%3A1634236

18 October 2022

M. M. Marques

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634236

18 October 2022

J. Lavinha

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634236

18 October 2022

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 July 1992

1 reference

Europe PubMed Central

24 November 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00219188.pdf

Portable Document Format

1 reference

10.1007/BF00219188

https://api.crossref.org/works/10.1007/BF00219188

18 October 2022

http://link.springer.com/article/10.1007/BF00219188/fulltext.html

1 reference

10.1007/BF00219188

https://api.crossref.org/works/10.1007/BF00219188

18 October 2022

http://link.springer.com/content/pdf/10.1007/BF00219188

1 reference

10.1007/BF00219188

https://api.crossref.org/works/10.1007/BF00219188

18 October 2022

1 reference

Europe PubMed Central

24 November 2017

89

1 reference

Europe PubMed Central

24 November 2017

5

1 reference

Europe PubMed Central

24 November 2017

573-576

1 reference

Europe PubMed Central

24 November 2017

https://scigraph.springernature.com/pub.10.1007/bf00219188

0 references

DNA haplotype distribution in Algerian beta thalassaemia patients. An extended evaluation by family studies and representative molecular characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine structure genetic analysis of a beta-globin promoter

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta thalassaemia mutations in Mediterranean populations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of high-molecular-weight DNA from mammalian cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of Small Percentages of Fœtal Hæmoglobin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid transfer of DNA from agarose gels to nylon membranes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta-thalassemia mutations in the Portuguese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Locus assignment of human alpha globin mutations by selective amplification and direct sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved free-energy parameters for predictions of RNA duplex stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

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/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hinf I polymorphism 3' to the human beta-globin gene detected by the polymerase chain reaction (PCR).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta-thalassemia repository

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

β+Thalassaemia—Portuguese type: clinical, haematological and molecular studies of a newly defined form of β thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219188

1 reference

Europe PubMed Central

24 November 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

24 November 2017

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