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ABCA3 Deficiency—Variant-Specific Response to Hydroxychloroquine

Biallelic variants in ABCA3, the gene encoding the lipid transporter ATP-binding cassette subfamily A member 3 (ABCA3) that is predominantly expressed in alveolar type II cells, may cause interstitial lung diseases in children (chILD) and adults. Currently, there is no proven therapy, but, frequentl...

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Detalles Bibliográficos
Autores principales: Yang, Xiaohua, Forstner, Maria, Rapp, Christina K., Rothenaigner, Ina, Li, Yang, Hadian, Kamyar, Griese, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179277/
https://www.ncbi.nlm.nih.gov/pubmed/37175887
http://dx.doi.org/10.3390/ijms24098179