Literature DB >> 15820953

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.

Piero C Giordano, Marelle J Bouva, Peter Van Delft, Nicole Akkerman, Mies C Kappers-Klunne, Cornelis L Harteveld.   

Abstract

At least 180,000 autochthonous and allochthonous people are carriers of a large spectrum of hemoglobinopathies in The Netherlands. We describe two cases, the first, a 33-year old Surinamese Creole woman, studied because of an intermediate hemolytic anemia; the second, a couple requesting analysis because of a previously diagnosed carrier state in the male partner, while the carrier state in the pregnant female was uncertain.

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Year:  2005        PMID: 15820953

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


  3 in total

Review 1.  A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview.

Authors:  Jian-Min Chen; Claude Férec; David N Cooper
Journal:  Hum Genet       Date:  2006-04-28       Impact factor: 4.132

2.  NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Authors:  Jennifer J Johnston; Kathleen A Williamson; Christopher M Chou; Julie C Sapp; Morad Ansari; Heather M Chapman; David N Cooper; Tabib Dabir; Jeffrey N Dudley; Richard J Holt; Nicola K Ragge; Alejandro A Schäffer; Shurjo K Sen; Anne M Slavotinek; David R FitzPatrick; Thomas M Glaser; Fiona Stewart; Graeme Cm Black; Leslie G Biesecker
Journal:  J Med Genet       Date:  2019-03-06       Impact factor: 6.318

Review 3.  Emerging Roles of RNA 3'-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders.

Authors:  Jamie Nourse; Stefano Spada; Sven Danckwardt
Journal:  Biomolecules       Date:  2020-06-17
  3 in total

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