Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli.
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ABSTRACT:
SUBMITTER: Mosella M
PROVIDER: S-EPMC5772110 | biostudies-other | 2018 Jan-Mar
REPOSITORIES: biostudies-other
Publications
Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli.
Mosella Marco M Accardo Mariasofia M Molino Antonio A Maniscalco Mauro M Zamparelli Alessandro Sanduzzi AS
Annals of thoracic medicine 20180101 1
Alpha-1 antitrypsin deficiency is a rare and often underdiagnosed hereditary disorder, which mainly affects the Caucasian population. We report a case of a noncystic fibrosis bronchiectasis patient in the absence of emphysema associated with low serum alpha-1-antitrypsin (AAT) level, in the absence of the most common defective alleles associated with AAT deficiency (PI*S and PI*Z) but with a new mutation in heterozygosis. This mutation is characterized by the substitution in the coding region of ...[more]
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