Validation of a Recombinant DNA Construct (μLCR and Full-Length β-Globin Gene) for Quantification of Human β-Globin Expression: Application to Mutations in the Promoter, Intronic, and 5′- and 3′-Untranslated Regions of the Human β-Globin Gene-Reference-Cited by-同舟云学术

Validation of a Recombinant DNA Construct (μLCR and Full-Length β-Globin Gene) for Quantification of Human β-Globin Expression: Application to Mutations in the Promoter, Intronic, and 5′- and 3′-Untranslated Regions of the Human β-Globin Gene

Published:2002-10-01 Issue:10 Volume:48 Page:1787-1791
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Irenge Leonid M¹,Heusterspreute Michel¹,Philippe Marianne²,Derclaye Isabelle¹,Robert Annie³,Gala Jean-Luc¹⁴

Affiliation:

1. Applied Molecular Technologies, Center for Human Genetics, Université Catholique de Louvain, Clos-Chapelle-aux-Champs, 30-UCL/30.46, B-1200 Bruxelles, Belgium

2. Department of Biochemistry, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate, 30, B-1200 Bruxelles, Belgium

3. Biostatistics and Epidemiology, Clos-Chapelle-aux-Champs, 30-UCL/30.34, Université Catholique de Louvain, B-1200 Bruxelles, Belgium

4. Applied Molecular Technologies, Queen Astrid Military Hospital, Rue Bruyn, 2, B-1120 Bruxelles, Belgium

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/48/10/1787/32735259/clinchem1787.pdf

Reference34 articles.

1. A novel mutation in the TATA box in a Japanese patient with beta +- thalassemia

2. β-thalassemia due to A T→A mutation within the ATA box

3. Functional analysis of the 4 bp deletion identified in the 5’untranslated region of one of the β-globin genes from a Chinese β-thalassaemic heterozygote