Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.

Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.

Non-deletional α(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of α(+)-thalassaemia. Screening for the common deletional forms of α-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional α-thalassaemia mutations is...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Haywood, A, Dreau, H, Timbs, A, Schuh, A, Old, J, Henderson, S
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2010

समान संसाधन

Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.
द्वारा: Gallienne, A, और अन्य
प्रकाशित: (2009)

Non-deletional alpha thalassaemia: a review
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द्वारा: Khairil Wahidin, Nurfhaezah, और अन्य
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Screening of concurrent alpha-Thalassaemia 1 in beta-Thalassaemia carriers
द्वारा: Chong, Y.M., और अन्य
प्रकाशित: (2006)

Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers
द्वारा: Chong, Yi Min
प्रकाशित: (2005)

THE ALPHA-3.7 AND ALPHA-4.2 DELETION FORMS OF ALPHA+-THALASSAEMIA DIFFER IN SEVERITY
द्वारा: Hill, A, और अन्य
प्रकाशित: (1985)

Haematology, genetics and molecular epidemiology of deletional alpha thalassaemia in Malaysia
द्वारा: Mohd Yacob, Aliza
प्रकाशित: (2011)

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
द्वारा: Gallienne, A, और अन्य
प्रकाशित: (2012)

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
द्वारा: Donnai, D, और अन्य
प्रकाशित: (1991)

Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.
द्वारा: Gallienne, A, और अन्य
प्रकाशित: (2010)

Alpha-thalassaemia.
द्वारा: Harteveld, C, और अन्य
प्रकाशित: (2010)

The alpha thalassaemias.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (2009)

Alpha-thalassaemia caused by a polyadenylation signal mutation.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (1983)

Nine Novel Mutations in the Erythroid Transcription Factor KLF1 Gene Associated with Increased Fetal Hemoglobin Levels in Adults
द्वारा: Gallienne, A, और अन्य
प्रकाशित: (2011)

The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
द्वारा: Wilkie, A, और अन्य
प्रकाशित: (1991)

Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia.
द्वारा: Khalil, MS, और अन्य
प्रकाशित: (2011)

Alpha-thalassaemia and the malaria hypothesis.
द्वारा: Hill, A, और अन्य
प्रकाशित: (1987)

Optimal mean corpuscular haemoglobin (MCH) cut-off value for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening
द्वारा: Idris, Faridah, और अन्य
प्रकाशित: (2020)

The interaction of alpha thalassaemia with malaria.
द्वारा: Oppenheimer, S, और अन्य
प्रकाशित: (1987)

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
द्वारा: Viprakasit, V, और अन्य
प्रकाशित: (2003)

Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
द्वारा: Fathma Abdullah, Nurul Ain
प्रकाशित: (2015)

Alpha thalassaemia in British people.
द्वारा: Higgs, D, और अन्य
प्रकाशित: (1985)

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.
द्वारा: Khalil, MS, और अन्य
प्रकाशित: (2014)

The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia.
द्वारा: Vyas, P, और अन्य
प्रकाशित: (1988)

Application of MLPA and gap-PCR mapping to characterise a novel beta globin gene cluster deletion mutation in a family of Afghan ancestry
द्वारा: Gallienne, A, और अन्य
प्रकाशित: (2009)

Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia
द्वारा: Divashini Vijian, और अन्य
प्रकाशित: (2023-02-01)

Acquired alpha thalassaemia in myelodysplastic syndrome
द्वारा: Cheong, P
प्रकाशित: (2018)

Splenic size in homozygous alpha+ thalassaemia.
द्वारा: Williams, T, और अन्य
प्रकाशित: (1998)

Development of a rapid and accurate immunological diagnostic method for alpha-thalassaemia screening
द्वारा: Lai, Choon Ming
प्रकाशित: (2009)

HbA2 levels in β-thalassaemia carriers with the Filipino β0-deletion: are the levels higher than what is found with non-deletional forms of β0-thalassaemia?
द्वारा: George, Elizabeth, और अन्य
प्रकाशित: (2013)

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults
द्वारा: Alice E. Gallienne, और अन्य
प्रकाशित: (2012-03-01)

Usefulness of red blood cell size factor (RSf) in screening genetic variants of alpha thalassaemia thalassaemia trait regardless of iron status
द्वारा: Idris, Nur Juliana, और अन्य
प्रकाशित: (2018)

Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report
द्वारा: Hala Shokr, और अन्य
प्रकाशित: (2024-11-01)

DETECTION OF SOMATIC MUTATIONS IN THE BRAF GENE BY PYROSEQUENCING
द्वारा: O. P. Dribnokhodova, और अन्य
प्रकाशित: (2021-10-01)

Common Β- Thalassaemia Mutations in
द्वारा: P Azarfam, और अन्य
प्रकाशित: (2005-01-01)

Alpha thalassaemia-mental retardation, X linked
द्वारा: Gibbons, R
प्रकाशित: (2006)

Alpha thalassaemia-mental retardation, X linked.
द्वारा: Gibbons, R
प्रकाशित: (2006)

Alpha thalassaemia-mental retardation, X linked
द्वारा: Gibbons Richard
प्रकाशित: (2006-05-01)

Delta-Beta Thalassaemia Screening
द्वारा: Beuy Joob, और अन्य
प्रकाशित: (2016-07-01)

Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group.
द्वारा: de Silva, S, और अन्य
प्रकाशित: (2000)