Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment-Reference-Cited by-同舟云学术

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Published:2015-01-30 Issue:5 Volume:38 Page:863-872
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Burda P.,Kuster A.,Hjalmarson O.,Suormala T.,Bürer C.,Lutz S.,Roussey G.,Christa L.,Asin-Cayuela J.,Kollberg G.,Andersson B. A.,Watkins D.,Rosenblatt D. S.,Fowler B.,Holme E.,Froese D. S.,Baumgartner M. R.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9810-3

Reference30 articles.

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3. Christensen KE, Rohlicek CV, Andelfinger GU et al (2009) The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum Mutat 30:212–20

4. Corpet F (1988) Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res 16:10881–90

5. de Marco P, Calevo MG, Moroni A et al (2002) Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. J Hum Genet 47:319–24

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