Literature DB >> 8330981

IVS-I-1 (G-->C) in combination with -42 (C-->G) in the promoter region of the beta-globin gene in patients from Tajikistan.

A N Fedorov1, E A Smirnova, T N Bocharova, S A Limborska.   

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Year:  1993        PMID： 8330981     DOI： 10.3109/03630269308998904

Source DB:  PubMed          Journal:  Hemoglobin        ISSN： 0363-0269            Impact factor:   0.849


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  3 in total

1.  Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient.

Authors:  Mahdi Muhammad Moosa; Mustak Ibn Ayub; Ama Emran Bashar; Golam Sarwardi; Waqar Khan; Haseena Khan; Sabina Yeasmin
Journal:  Genet Mol Biol       Date:  2011-07-01       Impact factor: 1.771

2.  Compound heterozygous β(+) β(0) mutation of HBB gene leading to β-thalassemia major in a Gujarati family - A case study.

Authors:  Spandan Chaudhary; Dipali Dhawan; Prashanth G Bagali; Pooja S Chaudhary; Abhinav Chaudhary; Sanjay Singh; Srinivas Vudathala
Journal:  Mol Genet Metab Rep       Date:  2016-04-13

3.  Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Authors:  Andrew Turner; Jurgen Sasse; Aniko Varadi
Journal:  BMC Med Genet       Date:  2016-10-19       Impact factor: 2.103
  3 in total

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