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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

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Published in European Journal of Haematology. 2011, vol. 86, no. 2, p. 178-9
Keywords Alternative SplicingAnemia, Iron-Deficiency/geneticsBase SequenceBinding SitesExonsFamily HealthHomozygoteHumansMembrane Proteins/geneticsMiddle AgedModels, GeneticMolecular Sequence DataMutationPhenotypeRNA Splice SitesReverse Transcriptase Polymerase Chain ReactionSerine Endopeptidases/genetics
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PMID: 20964721
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Article (Published version) (186 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research group Bases moléculaires des anomalies génétiques de l'hémostase (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. https://archive-ouverte.unige.ch/unige:32726

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Deposited on : 2014-01-02

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