Ontology highlight
ABSTRACT:
SUBMITTER: Torre LDCR
PROVIDER: S-EPMC7198011 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Genetics and molecular biology 20200203 4
Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families w ...[more]