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Affiliation
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland. emerkelly@rcsi.ieIssue Date
2010-06MeSH
Genetic TestingGenotype
Humans
Lung Diseases
Phenotype
Prevalence
Prognosis
Risk Factors
alpha 1-Antitrypsin Deficiency
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Alpha-1 antitrypsin deficiency. 2010, 104 (6):763-72 Respir MedJournal
Respiratory medicineDOI
10.1016/j.rmed.2010.01.016PubMed ID
20303723Abstract
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.
Much work has been carried out on this condition with many questions being answered but still further questions remain.
AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly. The clinical manifestations, prevalence, genetics, molecular pathophysiology, screening and treatment recommendations are summarised in this review.
Item Type
ArticleLanguage
enISSN
1532-3064ae974a485f413a2113503eed53cd6c53
10.1016/j.rmed.2010.01.016
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