(Q37213375)

19 August 2017

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants (English)

1 reference

19 August 2017

10

George P Patrinos

1 reference

19 August 2017

Kamran Moradkhani

1

1 reference

19 August 2017

Claude Préhu

2

1 reference

19 August 2017

John Old

3

1 reference

19 August 2017

Shirley Henderson

4

1 reference

19 August 2017

Vera Balamitsa

5

1 reference

19 August 2017

Hong-Yuan Luo

6

1 reference

19 August 2017

Man-Chiu Poon

7

1 reference

19 August 2017

David H K Chui

8

1 reference

19 August 2017

Henri Wajcman

9

1 reference

19 August 2017

16 October 2008

1 reference

19 August 2017

1 reference

19 August 2017

88

1 reference

19 August 2017

6

1 reference

19 August 2017

535-543

1 reference

Hb Jeddah [alpha68(E17)Asn-->His (alpha1)]: a newly recognized alpha chain variant, seen in combination with Hb S [beta6(A3)Glu-->Val], and found in three separate families of middle eastern origin

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Gene conversion: mechanisms, evolution and human disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Processes of de novo duplication of human alpha-globin genes.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

PhenCode: connecting ENCODE data with mutations and phenotype

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Hb H hydrops foetalis syndrome: a case report and review of literature.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Abnormal hemoglobins: laboratory methods

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Contribution of gene conversion in the evolution of the human beta-like globin gene family

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Haemoglobin Stanleyville II (alpha75 [EF 7] Asn yeilds Lys) found in France

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

The 5' regulatory region of the human fetal globin genes is a gene conversion hotspot

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Low oxygen saturation by pulse oximetry may be associated with a low oxygen affinity hemoglobin variant, hemoglobin Titusville.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Recording human globin gene variation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

An identical mutation carried by different genes: Hb Frankfurt [alpha50(CE8)His->Gln].

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Complex interaction of Hb Hekinan [alpha27(B8) Glu-Asp] and Hb E [beta26(B8) Glu-Lys] with a deletional alpha-thalassemia 1 in a Thai family.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Haemoglobin Stanleyville II (alpha asparagine replaced by lysine).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690850

Hb Toulon [alpha77(EF6)Pro-->His]: a new variant due to a mutation in the alpha2 gene found during measurement of glycated hemoglobin

4 December 2018

1 reference

12 December 2020

A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia

1 reference

12 December 2020

Hb Gerland [alpha55(E4)Val-->Ala (alpha2)]: a new neutral alpha chain variant involving the alpha2 gene

1 reference

12 December 2020

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

1 reference

12 December 2020

Detection of a novel variant human hemoglobin by electrospray ionization mass spectrometry

1 reference

12 December 2020

A hemoglobin variant found during glycohemoglobin measurement, identified as Hb Toulon [alpha77(EF6)Pro-->His] by tandem mass spectrometry

1 reference

12 December 2020

Hb Winnipeg or alpha 2 75(EF4)Asp leads to Tyr beta 2 in a large Caucasian family living in Georgia, USA

1 reference

12 December 2020

Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome

1 reference

12 December 2020

Human alpha-globin gene expression. The dominant role of the alpha 2-locus in mRNA and protein synthesis

1 reference

12 December 2020

Hemoglobin Hekinan [alpha (2)27(B8)Glu----Asp beta 2] detected in Guyana

1 reference

12 December 2020

The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes

1 reference

12 December 2020

HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family

1 reference

12 December 2020

The G gamma T chain (G gamma 75 Thr; 136 Gly) in Hb F-Charlotte is the product of an A gamma gene with a limited gene conversion and that in Hb F-Waynesboro of a mutated G gamma gene

1 reference

12 December 2020

Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events

1 reference

12 December 2020

Hb Hekinan in a Taiwanese subject: a G-->T substitution at codon 27 of the alpha1-globin gene abolishes an HaeIII site

1 reference

12 December 2020

Second report of Hb Toulon [alpha77(EF6)Pro-->His] in a Canadian family of Italian descent

1 reference

12 December 2020

10.1007/S00277-008-0624-3

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

18923834

1 reference