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Alpha-1 antitrypsin deficiency: outstanding questions and future directions
Alpha-1 Antitrypsin Regulates Transcriptional Levels of Serine Proteases in Blood Mononuclear Cells.
Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
FAS system deregulation in T-cell lymphoblastic lymphoma
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors.
Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene
Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease
MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression
MicroRNA profile in very young women with breast cancer
Polymerization of misfolded Z alpha-1antitrypin protein lowers CX3CR1 expression in human PBMCs.
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid
SpainUDP: The Spanish Undiagnosed Rare Diseases Program
The Delivery of α1-Antitrypsin Therapy Through Transepidermal Route: Worthwhile to Explore.
Why do some adults with PiMZ α1-antitrypsin develop bronchiectasis? [corrected]