Concepedia

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis

Rondell P. Graham, M A Dina, Sarah C. Howe, Malinda L. Butz, Kurt S. Willkomm, David Murray, Melissa R. Snyder, Kandelaria M. Rumilla, Kevin C. Halling, W. Edward Highsmith

Journal of Molecular Diagnostics · 2015 · 19 citations · 24 references

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24

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

C. Sue Richards, Sherri J. Bale, Daniel B. Bellissimo et al. · Genetics in Medicine · 2008 · 822 citations · Full text

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Liver Disease in Adults with Alpha<sub>1</sub>-Antitrypsin Deficiency

Nils O. Berg, Sten Eriksson · New England Journal of Medicine · 1972 · 267 citations

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Clarification of the Risk of Chronic Obstructive Pulmonary Disease in α1-Antitrypsin Deficiency PiMZ Heterozygotes

Kevin Molloy, Craig P. Hersh, Valerie B. Morris et al. · American Journal of Respiratory and Critical Care Medicine · 2014 · 180 citations

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Cloning and sequence of cDNA coding for alpha 1-antitrypsin.

Kotoku Kurachi, T.S. Chandra, S J Degen et al. · Proceedings of the National Academy of Sciences · 1981 · 179 citations · Full text

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Change in Lung Function and Morbidity from Chronic Obstructive Pulmonary Disease in α <sub>1</sub> -Antitrypsin <i>MZ</i> Heterozygotes: A Longitudinal Study of the General Population

Morten Dahl, Anne Tybjærg‐Hansen, Peter Lange et al. · Annals of Internal Medicine · 2002 · 170 citations

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