A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis

A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis

Abstract Background Juvenile Idiopathic Arthritis (JIA) represents the most prevalent chronic rheumatic disease in childhood. Its etiology is multifactorial, with growing evidence pointing to a significant genetic contribution to disease susceptibility. Recent genomic studies have identified a range...

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Main Authors: Hiba Alblooshi, Noor Mustafa, Azeem Abdul Khalam, Anjali Bharathan, Ekhlass Mohammed, Ibrahim Baydoun, Mushal Allam, Meera Almansoori, Tabeer Fatima, Najla Aljaberi
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Human Genomics
Subjects:
Juvenile arthritis
LACC1
FAMIN
Missense variant
Whole-exome sequencing
Genomics
Online Access:https://doi.org/10.1186/s40246-025-00800-2
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https://doi.org/10.1186/s40246-025-00800-2

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