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Article

The novel coexistence of SERPINA1 and JAK2 V617F mutations in alpha-1 antitrypsin deficiency.

Pathology - 1 Apr 2020

Mai Brenda, Friscia Michaelangelo, Wahed Amer, Nguyen Andy, Chen Lei

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Identifiers

PMID: 32115143
DOI: 10.1016/j.pathol.2019.12.005

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The novel coexistence of SERPINA1 and JAK2 V617F mutations in alpha-1 antitrypsin deficiency.PMID 32115143Read ↗

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Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.Semantic proximity Read ↗

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.Semantic proximity Read ↗

Functional and structural impact of novel SERPINA1 variants on Alpha-1 Antitrypsin DeficiencySemantic proximity Read ↗

A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.Semantic proximity Read ↗

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation SpectrumSemantic proximity Read ↗

Alpha-1 antitrypsin deficiency.Semantic proximity Read ↗

Genetic predisposition to chronic obstructive pulmonary disease: advances in alpha1-antitrypsin deficiency and the serpinopathies.Semantic proximity Read ↗

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin DeficiencySemantic proximity Read ↗

A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.Semantic proximity Read ↗

Novel variants of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.Semantic proximity Read ↗

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.Semantic proximity Read ↗

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