Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH.
Caudill
Jonathan S
JS
Imran
Hamayun
H
Porcher
Julie C
JC
Steensma
David P
DP
D000756:Anemia, Sideroblastic / Q000151:congenital* / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D002675:Child, Preschool; D005294:Ferrochelatase / Q000235:genetics* / Q000378:metabolism*; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*
D005294:Ferrochelatase