Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family.
Isabelle
I
Tchou
Tchou
T
Isabelle
Marguerite
M
Neerman-Arbez
Neerman-Arbez
NA
Marguerite
Photis
P
Beris
Beris
B
Photis
D017398:Alternative Splicing; D018798:Anemia, Iron-Deficiency / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites; D005091:Exons; D005192:Family Health; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D022821:RNA Splice Sites; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012697:Serine Endopeptidases / Q000235:genetics*
D008565:Membrane Proteins; D022821:RNA Splice Sites; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human