Salam Massadeh Muhammad Umair Manal Alaamery Majid Alfadhel
10.3389/fneur.2019.00411
Front Neurol
2019 Apr 24;10:411.
mthfr microcephaly non-sense mutation severe methylenetetrahydrofolate reductase deficiency white matter disease
CC BY
https://pubmed.ncbi.nlm.nih.gov/31068897/
Case Reports
PMC6491806
31068897
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
2019