Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency

Affiliations

¹ Department of Medical Genetics, University of British Columbia, Centre for Molecular Medicine and Therapeutics, Vancouver, BC V5Z 4H4, Canada. nadeeja@cmmt.ubc.ca

Comment

N Wijesekara. Clin Genet. 2011 Jun.

. 2011 Jun;79(6):507-8.

doi: 10.1111/j.1399-0004.2011.01662.x. Epub 2011 Apr 4.

¹ Department of Medical Genetics, University of British Columbia, Centre for Molecular Medicine and Therapeutics, Vancouver, BC V5Z 4H4, Canada. nadeeja@cmmt.ubc.ca

No abstract available

Comment on

Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K. Cario H, et al. Am J Hum Genet. 2011 Feb 11;88(2):226-31. doi: 10.1016/j.ajhg.2011.01.007. Am J Hum Genet. 2011. PMID: 21310277 Free PMC article.