Publications:

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.

The Application Of Clinical Genetics

Seixas, Susana S; Marques, Patricia Isabel PI

Publication Date: 2021

Variant appearance in text: GC: Phe52del

PubMed Link: 33790624

Variant Present in the following documents:

• Main text
• tacg-14-173.pdf

View BVdb publication page

Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Orphanet Journal Of Rare Diseases

Joly, Philippe P; Guillaud, Olivier O; Hervieu, Valérie V; Francina, Alain A; Mornex, Jean-François JF; Chapuis-Cellier, Colette C

Publication Date: 2015-10-07

Variant appearance in text: GC: 154_156del; Phe52del

PubMed Link: 26446624

Variant Present in the following documents:

• 13023_2015_Article_350.pdf

View BVdb publication page