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Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family |
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Published in | European journal of haematology. 2011, vol. 86, no. 2, p. 178-9 | |
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 | |
Identifiers | PMID: 20964721 | |
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Research group | Recherche translationnelle : anomalies de l'hémostase et thromboses (504) | |
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. 178-9. doi: 10.1111/j.1600-0609.2010.01547.x https://archive-ouverte.unige.ch/unige:32726 |