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Research Article: Estimating the Prevalence of AATD Patients in the UK to Identify Underdiagnosis and Determine the Eligibility for Potential Augmentation Therapy

Date Published: 2023-06-13

Introduction:
AATD is an autosomal, co-dominant inherited genetic disorder that may result in lung or liver disease; AAT is encoded by the SERPINA gene and mutations in this gene cause deficiency. The normal allele is designated M and the normal genotype designated PiMM, with common deficiency genotypes being PiZZ and PiSZ. Symptoms of alpha- associated lung disease resemble those of classic chronic obstructive pulmonary disease (COPD) or emphysema. Therefore it remains undiagnosed in many patients and the underlying cause may…

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