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Title

Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family
Authors
Tchou, Isabelle
Neerman Arbez, Marguerite
Beris, Photis
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
Full text
Article (Published version) (186 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Faculté de médecine / Section de médecine clinique / Département de médecine
Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
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

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Deposited on : 2014-01-02

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