THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA: Identification of novel compound heterozygotes and mutation update

OBJECTIVE: To determine causative mutations and clinical status of seven previously unreported kindreds with TRMA syndrome, (Thiamine Responsive Megaloblastic Anemia, OMIM #249270), a recessive disorder of thiamine transporter Slc19A2. STUDY DESIGN: Genomic DNA was purified from blood, and SLC19A2 m...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Neuwirth, Anke K., Sahai, Inderneel, Falcone, Jill F., Fleming, Judy, Bagg, Adam, Borgna-Pignatti, Caterina, Casey, Robin, Fabris, Luca, Hexner, Elizabeth, Mathews, Lulu, Ribeiro, Maria Leticia, Wierenga, Klaas J., Neufeld, Ellis J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2009
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858590/
https://ncbi.nlm.nih.gov/pubmed/19643445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2009.06.017
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk