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Article

Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China.

Archives of gynecology and obstetrics - 1 Aug 2013

Wang Shao-shuai, Wang Chao, Qiao Fu-yuan, Lv Juan-juan, Feng Ling

Abstract excerpt

PURPOSE: To explore the relationship between genetic polymorphisms in reduced folate carrier 1 (RFC-1), cystathionine b-synthase (CBS), two key genes in folate metabolism, and the risk of Down syndrome in China. METHODS: Genomic DNA was isolated from the peripheral lymphocytes of 104 mothers born children with Down syndrome and 184 age-matched control mothers. Polymerase chain reaction and restriction-fragment...

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Source

Identifiers

PMID: 23430030
DOI: 10.1007/s00404-013-2760-9

Genes

CBS
RFC1

Variants

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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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