Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family
ContributorsTchou, Isabelle; Neerman Arbez, Marguerite
Published inEuropean journal of haematology, vol. 86, no. 2, p. 178-179
Publication date2011
Keywords
- 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
Citation (ISO format)
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
Main files (1)
Article (Published version)
Identifiers
- PID : unige:32726
- DOI : 10.1111/j.1600-0609.2010.01547.x
- PMID : 20964721
Journal ISSN0902-4441
