Open AccessA Hypotonic Infant with Fatal Methylenetetrahydrofolate Reductase Deficiency Due to Homozygote c.1015T>G Mutation
Author(s) -
Muzaffer Öztürk,
Yasemin Soysal,
Nezih Hekim,
Dilşat Türkdoğan
Publication year - 2014
Publication title -
çocuk acil ve yoğun bakım
Language(s) - English
Resource type - Journals
eISSN - 2148-7332
pISSN - 2146-2399
DOI - 10.5505/cayb.2014.54264
Subject(s) - methylenetetrahydrofolate reductase , tonicity , mutation , heterozygote advantage , genetics , medicine , endocrinology , biology , genotype , gene