Ontology highlight
ABSTRACT:
SUBMITTER: Yaish HM
PROVIDER: S-EPMC5656052 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Yaish Hassan M HM Farrell Colin P CP Christensen Robert D RD MacQueen Brianna C BC Jackson Laurie K LK Trochez-Enciso Jesus J Kaplan Jerry J Ward Diane M DM Salah Walid K WK Phillips John D JD
Blood cells, molecules & diseases 20170409
In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron-refractory iron deficiency anemia. ...[more]