Alpha-1-antitrypsin genotyping with mouthwash specimens

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Alpha-1-antitrypsin genotyping with mouthwash specimens.

Alpha1-antitrypsin (alpha1-AT) deficiency is diagnosed as a two-stage procedure (concentration and phenotype). However the latter does not provide clues to the presence of null genes without family studies and obtaining blood from patients at a distance often proves difficult. The aim of the study was to assess the feasibility of genotyping alpha1-AT using buccal cells. Mouthwash specimens were...

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Alpha 1 antitrypsin deficiency.

Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.

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Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis

The acute phase protein alpha-1 antitrypsin (AAT) is mainly produced in liver cells. AAT deficiency affects the lungs and liver. We conducted a case-control study to define a valuable method for the proper diagnosis of alpha-1 antitrypsin deficiency (AATD), as well as the association of liver cirrhosis with AATD in Saudi adults.Blood samples from 300 liver cirrhosis patients and 400 controls we...

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Alpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement

Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...

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Prevalence of Alpha-1 Antitrypsin (A1AT) Deficiency among Patients with COPD in Kerman, Iran

Background: One of the genetic risk factors for chronic obstructive pulmonary disease (COPD) is deficiency of Alpha-1 Antitrypsin (A1AT). There is no exact statistics about the prevalence of this disease in different regions of Iran. The present study aimed to determine the prevalence of alpha-1 antitrypsin (A1AT) deficiency in COPD patients in Kerman, Iran. Metho...

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ژورنال

عنوان ژورنال: European Respiratory Journal

سال: 2001

ISSN: 0000-0000,0903-1936

DOI: 10.1183/09031936.01.17303560