Literature DB >> 8427978

Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction.

J E Craig, R Barnetson, D J Weatherall, S L Thein.   

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Year:  1993        PMID： 8427978

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  3 in total

1.  A unique origin for Sicilian (delta beta) (0)-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis.

Authors:  G Esposito; M Grosso; E Gottardi; P Izzo; C Camaschella; F Salvatore
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

2.  Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.

Authors:  C L Harteveld; A Voskamp; M Phylipsen; N Akkermans; J T den Dunnen; S J White; P C Giordano
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

Review 3.  The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Authors:  Cornelis L Harteveld; Ahlem Achour; Sandra J G Arkesteijn; Jeanet Ter Huurne; Maaike Verschuren; Sharda Bhagwandien-Bisoen; Rianne Schaap; Linda Vijfhuizen; Hakima El Idrissi; Tamara T Koopmann
Journal:  Int J Lab Hematol       Date:  2022-09       Impact factor: 3.450
  3 in total

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