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Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family

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
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)
accessLevelRestricted
Identifiants
ISSN du journal0902-4441
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Informations techniques

Création11/11/2013 11:28:00
Première validation11/11/2013 11:28:00
Heure de mise à jour14/03/2023 20:47:13
Changement de statut14/03/2023 20:47:13
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