1-Antitrypsin deficiency {middle dot} 2: Genetic aspects of 1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk
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چکیده
منابع مشابه
REVIEW SERIES a1-Antitrypsin deficiency ? 2: Genetic aspects of a1- antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk
Correspondence to: Dr D L DeMeo, Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital, 181 Longwood Avenue, Boston, MA 02446, USA; dawn. [email protected]. edu . . . . . . . . . . . . . . . . . . . . . . . T he susceptibility to develop chronic obstructive pulmonary disease (COPD) results from a combination of geneti...
متن کاملGenetic Testing for Alpha-1 Antitrypsin Deficiency
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متن کاملAlpha 1-antitrypsin-deficiency-related emphysema.
BACKGROUND A congenital cause of emphysema resulting from alpha 1-antitrypsin (A1AT) deficiency affects 1 in 2500 individuals and could account for emphysema in 2 percent of all persons with emphysema. Individuals aged 30 to 45 years with chronic shortness of breath and coughing could have A1AT deficiency. METHODS Using the key words "alpha 1-antitrypsin deficiency," "chronic obstructive pulm...
متن کاملAlpha-1 Antitrypsin Deficiency – A Genetic Risk Factor for COPD
Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder characterised by low circulating levels of the key antiprotease alpha-1 antitrypsin (AAT) and is associated with the development of chronic obstructive pulmonary disease (COPD), often by the 3rd or 4th decade, and liver disease. The two most common SERPINA1 mutations associated with AATD are the Z and S mutations, and the vast major...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
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ژورنال
عنوان ژورنال: Thorax
سال: 2004
ISSN: 0040-6376
DOI: 10.1136/thx.2003.006502