Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency-Reference-Cited by-同舟云学术

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

Published:2018-06-28 Issue:9 Volume:39 Page:1203-1213
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Giacopuzzi Edoardo¹^ORCID,Laffranchi Mattia²^ORCID,Berardelli Romina²,Ravasio Viola¹,Ferrarotti Ilaria³^ORCID,Gooptu Bibek⁴^ORCID,Borsani Giuseppe¹^ORCID,Fra Annamaria²^ORCID

Affiliation:

1. Division of Biology and Genetics; Department of Molecular and Translational Medicine; University of Brescia; Brescia Italy

2. Experimental Oncology and Immunology; Department of Molecular and Translational Medicine; University of Brescia; Brescia Italy

3. Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency; Department of Internal Medicine and Therapeutics; University of Pavia; Pavia Italy

4. Leicester Institute of Structural and Chemical Biology / NIHR Leicester BRC - Respiratory; University of Leicester; Leicester UK

Funder

Medical Research Council

Fondazione Cariplo and Regione Lombardia

Italian Alfa1-AT Association

Fondazione Cariplo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23562/fullpdf

Reference52 articles.

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3. Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase;Cook;Pathology,1996

4. Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion;Curiel;Journal of Biological Chemistry,1989

5. Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele;Faber;American Journal of Human Genetics,1994

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