(Q41189224)

28 September 2017

1 reference

title

Human alpha-thalassemia syndromes: detection of molecular defects (English)

1 reference

28 September 2017

Kattamis AC

1

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28 September 2017

Camaschella C

2

1 reference

28 September 2017

Sivera P

3

1 reference

28 September 2017

Surrey S

4

1 reference

28 September 2017

Fortina P

5

1 reference

28 September 2017

1 October 1996

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American Journal of Hematology

28 September 2017

1 reference

28 September 2017

53

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28 September 2017

2

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28 September 2017

81-91

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

28 September 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A PCR-based strategy to detect the common severe determinants of alpha thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Rapid analysis of -alpha 3.7 thalassaemia and alpha alpha alpha anti 3.7 triplication by enzymatic amplification analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Studies on the in vitro and in vivo expression of a dysfunctional alpha-globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Independent recombination events between the duplicated human α globin genes; implications for their concerted evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Characterization of a new alpha zero thalassaemia defect in the South African population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Alpha-thalassaemia caused by a polyadenylation signal mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Haemoglobin Constant Spring--a chain termination mutant?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Hemoglobinopathies Among the Gond Tribal Groups of Central India; Interaction of α- and β-Thalassemia with β Chain Variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A new deletional alpha-thalassemia detected in Yemenites with hemoglobin H disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Mutation in an intervening sequence splice junction in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A new gene deletion involving the alpha 2-, alpha 1-, and theta 1-globin genes in a black family with Hb H disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Hb H disease and mild mental retardation in a black girl with a Hb S heterozygosity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Black alpha-thalassemia-1: partial characterization of an approximately 80 kb deletion which includes the zeta- and alpha-globin genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A novel deletion of the entire alpha globin locus causing alpha-thalassemia-1 in a northern European family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Detection of common deletional alpha-thalassemia-2 determinants by PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Molecular screening for haemoglobin constant spring

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

An IVS-I-117 (G-->A) acceptor splice site mutation in the alpha 1-globin gene is a nondeletional alpha-thalassaemia-2 determinant in an Indian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Characterization of nondeletion alpha-thalassemia mutations in the Greek population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A mutation in the polyadenylation signal of the alpha 2 globin gene (AATAAA-->AATA--) as a cause of alpha thalassaemia in Asian indians

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Molecular basis and hematological characterization of Hb H disease in southeast Asia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Hb H disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Alpha-thalassaemia in an Asian Indian

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Simple non-radioactive method for detecting haemoglobin Constant Spring gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

The levels of zeta, gamma, and delta chains in patients with Hb H disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Alpha-thalassemia-1 (--CAL mutation) in a Spanish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Characterization of a newly discovered alpha-thalassaemia-1 in two Spanish patients with Hb H disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Characterization of a new alpha-thalassemia-1 mutation in a Spanish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Characterization of a new alpha-thalassemia-1 deletion in a Spanish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Abnormal RNA splicing causes one form of alpha thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

A novel deletion of the entire alpha-globin gene cluster in a British individual

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8652%28199610%2953%3A2%3C81%3A%3AAID-AJH5%3E3.0.CO%3B2-%23

10.1002/(SICI)1096-8652(199610)53:2<81::AID-AJH5>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

28 September 2017

1 reference