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Article

Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.

Cellular and molecular life sciences : CMLS - 1 Nov 2016

Jackson Rebecca A, Nguyen Mai Linh, Barrett Angela N, Tan Yuan Yee, Choolani Mahesh A, Chen Ee Sin

Abstract excerpt

Single nucleotide polymorphisms (SNPs) are important biomolecular markers in health and disease. Down syndrome, or Trisomy 21, is the most frequently occurring chromosomal abnormality in live-born children. Here, we highlight associations between SNPs in several important enzymes involved in the one-carbon folate metabolic pathway and the elevated maternal risk of having a child with Down syndrome. Our survey...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Tumor Suppressor Protein p53

Source

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Identifiers

PMID: 27245382
DOI: 10.1007/s00018-016-2276-0
PMCID: PMC11108497

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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