e-learning
resources
Milan 2017
Sunday, 10.09.2017
Current molecular and genetic understanding of lung diseases
Login
Search all ERS
e-learning
resources
Disease Areas
Airways Diseases
Interstitial Lung Diseases
Respiratory Critical Care
Respiratory Infections
Paediatric Respiratory Diseases
Pulmonary Vascular Diseases
Sleep and Breathing Disorders
Thoracic Oncology
Events
International Congress
Courses
Webinars
Conferences
Research Seminars
Journal Clubs
Publications
Breathe
Monograph
ERJ
ERJ Open Research
ERR
European Lung White Book
Handbook Series
Guidelines
All ERS guidelines
e-learning
CME Online
Case reports
Short Videos
SpirXpert
Procedure Videos
CME tests
Reference Database of Respiratory Sounds
Radiology Image Challenge
Brief tobacco interventions
EU Projects
VALUE-Dx
ERN-LUNG
ECRAID
UNITE4TB
Disease Areas
Events
Publications
Guidelines
e-learning
EU Projects
Login
Search
A new SERPINA-1 missense mutation associated with alpha-1 antitrypsin deficiency and bronchiectasis.
A. Palmiotti (foggia, Italy)
Source:
International Congress 2017 – Current molecular and genetic understanding of lung diseases
Session:
Current molecular and genetic understanding of lung diseases
Session type:
Thematic Poster
Number:
971
Rating:
You must
login
to grade this presentation.
Share or cite this content
Citations should be made in the following way:
A. Palmiotti (foggia, Italy). A new SERPINA-1 missense mutation associated with alpha-1 antitrypsin deficiency and bronchiectasis.. 971
You must
login
to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.
Member's Comments
No comment yet.
You must
Login
to comment this presentation.
Related content which might interest you:
The Relationship Between Functional Status and Fatigue After COVID-19 Infection
Observational cohort study of pulmonary exacerbations in alpha-1 antitrypsin deficiency
Predictive indexes in prolonged weaning of mechanical ventilation due to tracheostomy in patients with COVID-19 pneumonia
Related content which might interest you:
Structural and clinical characterization of novel missense variants of SERPINA1 gene causing alpha-1 antitrypsin deficiency
Source: International Congress 2019 – Crosstalk in chronic pulmonary diseases
Year: 2019
GSTP1 polymorphisms in patients with COPD and alpha-1 antitrypsin deficiency
Source: Eur Respir J 2003; 22: Suppl. 45, 384s
Year: 2003
Molecular characterization of novel PiS-like alleles identified in Spanish patients with Alpha-1 antitrypsin deficiency
Source: International Congress 2018 – Functional genomics and COPD: new challenges
Year: 2018
Prevalence of mutations in the alpha 1 antitrypsin gene in patients with pulmonary emphysema
Source: International Congress 2019 – Chronic cough, a1-antitrypsin deficiency and other conditions
Year: 2019
The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes
Source: Eur Respir J, 56 (6) 2001441; 10.1183/13993003.01441-2020
Year: 2020
Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe dyspnea
Source: International Congress 2016 – Molecular targets in pulmonary disease
Year: 2016
Alpha 1 antitrypsin (A1AT) deficiency among patients with cystic fibrosis
Source: Eur Respir J 2003; 22: Suppl. 45, 501s
Year: 2003
Rare SERPINA1 allele Mwhitstable in patients with Alpha1-antitrypsin deficiency
Source: International Congress 2019 – New molecular signatures in COPD, lung cancer and a1-antitrypsin deficiency
Year: 2019
Rare alpha-1 antitrypsin mutations in the Irish population
Source: Annual Congress 2012 - COPD inflammation and genes
Year: 2012
Rare alpha-1 antitrypsin mutations in the Irish population
Source: Annual Congress 2011 - Genetic and environmental risk factors for respiratory diseases
Year: 2011
Functional alterations of small airways in patients with alpha-1 antitrypsin deficiency (AATD) in a longitudinal study
Source: Eur Respir J 2005; 26: Suppl. 49, 361s
Year: 2005
Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0
Ourém
mutation: A clinical characterization
Source: Annual Congress 2010 - Genetics of obstruction
Year: 2010
COPD in individuals with the PiMZ alpha-1 antitrypsin genotype
Source: Eur Respir Rev, 26 (146) 170068; 10.1183/16000617.0068-2017
Year: 2017
PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency
Source: Virtual Congress 2020 – Intercellular communication in tissue remodelling of chronic lung diseases
Year: 2020
Alpha-1 antitrypsin deficiency – a potentially fatal disease
Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases
Year: 2017
Alpha-1 antitrypsin: functional analysis of novel variants
Source: Research Seminar 2014 - Protein quality control in lung disease
Year: 2014
Alpha-1 antitrypsin deficiency in patients with COPD/emphysema, bronchiectasis and asthma
Source: Virtual Congress 2020 – New biomarkers for management of obstructive diseases
Year: 2020
Regional deposition of
99m
Tc-labelled alpha-1 antitrypsin (AAT) in patients with alpha-1 antitrypsin deficiency and cystic fibrosis (CF) compared with healthy volunteers
Source: Annual Congress 2007 - Cystic fibrosis: the balance between treatment and side-effects
Year: 2007
Tracing down the evolutionary history of Q0
Ourém
, a rare allele associated with severe alpha-1-antitrypsin deficiency (AATD)
Source: Annual Congress 2009 - What is new in molecular pathology and functional genomics of neoplastic and non-neoplastic lung disease?
Year: 2009
We use cookies on our website to give you the most relevant experience by remembering your preferences and repeat visits. By clicking "Accept", you consent to the use of the cookies.
Accept