A monogenic lupus family caused by homozygous deletions of DNASE1L3 gene and literature review

Objective: To report the clinical features and genetic variations of monogenic lupus caused by DNASE1L3 deficiency and to introduce preliminary experience on diagnosis and treatment for this disease. Methods: Clinical data of 3 children from the same pedigree were collected who were diagnosed with D...

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Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 60(2022), 12 vom: 02. Dez., Seite 1276-1281
Auteur principal: Wang, W (Auteur)
Autres auteurs: Li, X L, Li, W D, Ou, J B, Gao, S H, Zhang, C H, Liu, Y L, Sun, Z C, Ma, M S, Song, H M
Format: Article en ligne
Langue:Chinese
Publié: 2022
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:Review Case Reports English Abstract Journal Article Complement C3 Antibodies, Antinuclear anti-dsDNA autoantibody Interferons 9008-11-1 Antiviral Agents plus... DNASE1L3 protein, human EC 3.1.- Endodeoxyribonucleases