Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories
Autor: | Cecilia Trabanelli, Elisa Calzolari, Francesca Gualandi, B. Dolcini, Anna Venturoli, Marina Taddei Masieri, Alessandra Ferlini, Anna Ravani, Alessandra Brandi, Paola Rimessi |
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Rok vydání: | 2006 |
Předmět: |
Pediatrics
medicine.medical_specialty Pregnancy business.industry beta-Thalassemia MEDLINE Reproducibility of Results Obstetrics and Gynecology Beta thalassemia Commercial kit medicine.disease Polymerase Chain Reaction Prenatal Diagnosis Mutation Mutation (genetic algorithm) medicine Mutation testing Humans Female Reagent Kits Diagnostic Laboratories business Alleles Genetics (clinical) |
Zdroj: | Prenatal Diagnosis. 26:989-991 |
ISSN: | 1097-0223 0197-3851 |
DOI: | 10.1002/pd.1545 |
Databáze: | OpenAIRE |
Externí odkaz: |
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