A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.

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Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli.

P2860

Q47641651-9F85D6BD-682B-4600-835B-590ADC31C4CF

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A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.

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http://www.wikidata.org/entity/Q47846105

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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name

A New SERPINA-1 Missense Mutat ...... Deficiency and Bronchiectasis.

@en

A New SERPINA-1 Missense Mutat ...... Deficiency and Bronchiectasis.

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type

Item

label

A New SERPINA-1 Missense Mutat ...... Deficiency and Bronchiectasis.

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A New SERPINA-1 Missense Mutat ...... Deficiency and Bronchiectasis.

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prefLabel

A New SERPINA-1 Missense Mutat ...... Deficiency and Bronchiectasis.

@en

A New SERPINA-1 Missense Mutat ...... Deficiency and Bronchiectasis.

@nl

P1476

A New SERPINA-1 Missense Mutat ...... Deficiency and Bronchiectasis

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A Leccese

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D Lacedonia

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E Giuffreda

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M Margaglione

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R Santacroce

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P2860

Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk

Topography of a 2.0 Å structure of α1-antitrypsin reveals targets for rational drug design to prevent conformational disease

Why do some adults with PiMZ α1-antitrypsin develop bronchiectasis?

Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data.

Etiology of Non-Cystic Fibrosis Bronchiectasis in Adults and Its Correlation to Disease Severity.

Therapeutic efficacy of α-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry.

Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries.

Clinical practice. Alpha1-antitrypsin deficiency.

Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism

Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.

P2888

s00408-017-0033-2

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679-682

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scholarly article

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10.1007/S00408-017-0033-2

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195

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Stefano Aliberti

Giovanna E. Carpagnano

Maria Pia Foschino Barbaro

G A Palmiotti

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2017-07-01T00:00:00Z

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28668972

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A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.

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P2860

P2860

A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.

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