Associated Papers
Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.
Wu Y et al.
Molecular Genetics & Genomic Medicine, 2023
A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.
Butbul Aviel Y et al.
Rheumatology (oxford, England), 2021
New or vanishing frontiers: LACC1-associated juvenile arthritis.
Al-Mayouf SM et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
LACC1 gene mutation in three sisters with polyarthritis without systemic features.
Singh A et al.
Annals of the Rheumatic Diseases, 2020
FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle.
Cader MZ et al.
Cell, 2020
31978345 (PubMed )
Supplement: mmc1.pdf
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
Rabionet R et al.
Scientific Reports, 2019
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.
Kallinich T et al.
Pediatric Rheumatology Online Journal, 2016
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