Literature DB >> 34347262

Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome.

Vykuntaraju K Gowda1, Varunvenkat M Srinivasan2, Sanjay K Shivappa2.   

Abstract

Entities:  

Year:  2021        PMID： 34347262     DOI： 10.1007/s12098-021-03899-y

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  1 in total

1.  Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

Authors:  P Goyette; B Christensen; D S Rosenblatt; R Rozen
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025
  1 in total

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