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Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center

Yifan Li1, Qianying Lv1, Wei Lu2

  • 1Department of Rheumatology, Children's Hospital of Fudan University, National Center for Children's Health, Shanghai, China.

Orphanet Journal of Rare Diseases
|March 13, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Lysinuric protein intoleranceMonogenic lupusSLC7A7Systemic lupus erythematosus

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...