Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family
Contributeurs/tricesTchou, Isabelle; Neerman Arbez, Marguerite ; Beris, Photis
Publié dansEuropean journal of haematology, vol. 86, no. 2, p. 178-179
Date de publication2011
Mots-clés
- Alternative Splicing
- Anemia, Iron-Deficiency/genetics
- Base Sequence
- Binding Sites
- Exons
- Family Health
- Homozygote
- Humans
- Membrane Proteins/genetics
- Middle Aged
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA Splice Sites
- Reverse Transcriptase Polymerase Chain Reaction
- Serine Endopeptidases/genetics
Groupe de recherche
Citation (format ISO)
TCHOU, Isabelle, NEERMAN ARBEZ, Marguerite, BERIS, Photis. Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family. In: European journal of haematology, 2011, vol. 86, n° 2, p. 178–179. doi: 10.1111/j.1600-0609.2010.01547.x
Fichiers principaux (1)
Article (Published version)
Identifiants
- PID : unige:32726
- DOI : 10.1111/j.1600-0609.2010.01547.x
- PMID : 20964721
ISSN du journal0902-4441