Ontology highlight
ABSTRACT:
SUBMITTER: Torre LDCR
PROVIDER: S-EPMC7198011 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Torre Lourdes Del Carmen Rizo de la LDCR Díaz Francisco Javier Perea FJP Cortés Bertha Ibarra BI López Víctor Manuel Rentería VMR López Josefina Yoaly Sánchez JYS Anzaldo Francisco Javier Sánchez FJS Torres María Teresa Magaña MTM Gonnet Katia K Badens Catherine C Bonello-Palot Nathalie N
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]