Identification and analysis of rare and novel mutations of the alpha-1-antitrypsin gene

C. Herr, R. Koczulla, V. Kotke, C. Vogelmeier, R. Bals (Marburg, Germany)

Source: Annual Congress 2009 - What is new in molecular pathology and functional genomics of neoplastic and non-neoplastic lung disease?

Congress or journal article abstractE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
C. Herr, R. Koczulla, V. Kotke, C. Vogelmeier, R. Bals (Marburg, Germany). Identification and analysis of rare and novel mutations of the alpha-1-antitrypsin gene. Eur Respir J 2009; 34: Suppl. 53, 4761

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:
Identification and characterisation of twenty-two novel SERPINA1 pathological mutations
Source: Virtual Congress 2020 – Genetic and environmental influences on development of asthma and COPD
Year: 2020




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


Identification and characterisation of seven novel SERPINA1 null mutations
Source: International Congress 2014 – Genes and environment in asthma and COPD
Year: 2014



Identification of novel rare genetic variants associated with COPD in the general population
Source: International Congress 2018 – Multiomics studies in epidemiology: what can they tell us?
Year: 2018



Genetic analysis of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis
Source: Annual Congress 2011 - Genetics of airway diseases and treatment
Year: 2011


Large phenotypic spectrum associated with two new deep intronic variants on the CFTR gene
Source: International Congress 2018 – Latest developments in cystic fibrosis
Year: 2018



Novel genetic variants in alpha-1 antitripsin deficiency cases carrying S alleles and discordant genotype and serum levels
Source: International Congress 2015 – Promising novel findings in translational pulmonary research
Year: 2015

Positional cloning on 19q13 identifies UPAR as a potential asthma susceptibility gene
Source: Eur Respir J 2007; 30: Suppl. 51, 37s
Year: 2007

Sarcoidosis is associated with a truncating splice site mutation in the BTNL2 gene
Source: Eur Respir J 2005; 26: Suppl. 49, 468s
Year: 2005

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

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program
Source: Annual Congress 2007 - Lung function and therapy in obstructive lung diseases
Year: 2007


Haploid genetic screening identifies a novel regulator of BMPR2
Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension
Year: 2020




Target other gene point mutations: HER2 and rare EGFR mutations
Source: ERS Research Seminar
Year: 2015

New method of Alpha-1-antitrypsin diagnosis facilitates the detection of rare mutations
Source: Virtual Congress 2020 – New tools for diagnosis of obstructive diseases
Year: 2020

Candidate surrogate markers for COPD identified by differential gene expression
Source: Eur Respir J 2002; 20: Suppl. 38, 583s
Year: 2002

SERPINA1 gene variants in subjects from a general population with reduced alpha1-antitrypsin level
Source: Annual Congress 2008 - COPD
Year: 2008


Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation
Source: Eur Respir J 2004; 24: 1072-1073
Year: 2004


Description of new CFTR gene’s mutations in patients of Russia
Source: Virtual Congress 2020 – Cystic fibrosis
Year: 2020


Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency
Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases
Year: 2017