Multiplex minisequencing screen for common Southeast Asian and Indian β-Thalassemia mutations

Author

WEN WANG¹ ; KHAM, Shirley K. Y¹ ; YEO, Gare-Hoon¹ ; QUAH, Thuan-Chong^{1 2} ; CHONG, Samuel S^{1 2 3 4 5}
[1] Department of Pediatrics, National University of Singapore, Singapore 119074, Singapore
[2] The Children's Medical Institute, National University Hospital, Singapore 119074, Singapore
[3] Department of Obstetrics & Gynecology, National University of Singapore, Singapore 119074, Singapore
[4] Molecular Diagnosis Center, Department of Laboratory Medicine, National University Hospital, Singapore 119074, Singapore
[5] Departments of Pediatrics and of Gynecology & Obstetrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States

Source

Clinical chemistry (Baltimore, Md.). 2003, Vol 49, Num 2, pp 209-218, 10 p ; ref : 33 ref

CODEN

CLCHAU

ISSN

0009-9147

Scientific domain

Biochemistry, molecular biology, biophysics; Medical laboratory techniques; General medicine general surgery

Publisher

American Association for Clinical Chemistry, Washington, DC

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Dépistage Electrophorèse capillaire Globine Gène Génotype Homme Multiplexage Mutation Méthode semi-automatique Séquençage Technique Thalassémie β Asie du sud est Inde Anémie hémolytique Biologie moléculaire Génétique Hémoglobinopathie Hémopathie Maladie héréditaire Asie

Keyword (en)

Medical screening Capillary electrophoresis Globin Gene Genotype Human Multiplexing Mutation Semiautomatic method Sequencing Technique β-Thalassemia South east Asia India Hemolytic anemia Molecular biology Genetics Hemoglobinopathy Hemopathy Genetic disease Asia

Keyword (es)

Descubrimiento Electroforesis capilar Globina Gen Genotipo Hombre Multiplaje Mutación Método semi-automático Sequencing Técnica Talasemia β Asia del sureste India Anemia hemolítica Biología molecular Genética Hemoglobinopatía Hemopatía Enfermedad hereditaria Asia

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling

Pascal

002 Biological and medical sciences / 235 Tropical medicine

Discipline

Medical genetics Tropical medicine

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

14518158

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS