Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing
Author:
Affiliation:
1. Brigham and Women’s HospitalBoston, Massachusetts
2. HerediLab, Inc.Salt Lake City, Utahand
3. Boston Children’s HospitalBoston, Massachusetts
Publisher
American Thoracic Society
Subject
Critical Care and Intensive Care Medicine,Pulmonary and Respiratory Medicine
Link
https://www.atsjournals.org/doi/pdf/10.1164/rccm.201809-1679LE
Reference10 articles.
1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
3. Alpha1-Antitrypsin Deficiency
4. Identification and characterisation of eight novel SERPINA1 Null mutations
5. PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD
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