Open AccessHomozygous Mutation in the MTHFS Gene May Contribute to the Development of Cerebral Folate Deficiency Syndrome
Author(s) -
Dharaniya Sakthivel,
Yunping Lei,
Xuanye Cao,
Richard H. Finnell
Publication year - 2020
Publication title -
reproductive and developmental medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.161
H-Index - 3
eISSN - 2589-8728
pISSN - 2096-2924
DOI - 10.4103/2096-2924.288022
Subject(s) - missense mutation , exome sequencing , biology , mutation , gene , dihydrofolate reductase , proband , compound heterozygosity , genetics , mutant , heterozygote advantage , biochemistry , allele