In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C&gt;A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G&gt;C) and E9Gfs (c.17-18insC).
C0342705
Folate Malabsorption, Hereditary