A carregar...
Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation
HBA2: We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found t...
Na minha lista:
| Main Authors: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Informa Healthcare USA, Inc.
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3971804/ https://ncbi.nlm.nih.gov/pubmed/24351118 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/03630269.2013.863206 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|