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Journal Article
06/2017, ISBN 0128039426, 262
'Alpha-1-antitrypsin Deficiency' is the authoritative reference on AATD, providing standards for diagnosis, monitoring, treatment and appropriate avenues of... 
Alpha 1-antitrypsin deficiency
eBook
Anti-Inflammatory and Anti-Allergy Agents in Medicinal Chemistry, ISSN 1871-5230, 2010, Volume 9, Issue 4, pp. 299 - 303
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2017, Volume 49, Issue 8, pp. 1255 - 1260
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 02/2011, Volume 12, Issue 1, pp. 24 - 24
Journal Article
Thorax, ISSN 0040-6376, 06/2016, Volume 71, Issue 6, pp. 501 - 509
Journal Article
Annals of Clinical Biochemistry, ISSN 0004-5632, 05/2006, Volume 43, p. 241
Journal Article
Hepatology, ISSN 0270-9139, 09/2010, Volume 52, Issue 3, pp. 1078 - 1088
Alpha 1 ‐antitrypsin is the most abundant circulating protease inhibitor. The severe Z deficiency allele (Glu342Lys) causes the protein to undergo a... 
Journal Article
by Cruchaga, Carlos and Karch, Celeste M and Jin, Sheng Chih and Benitez, Bruno A and Cai, Yefei and Guerreiro, Rita and Harari, Oscar and Norton, Joanne and Budde, John and Bertelsen, Sarah and Jeng, Amanda T and Cooper, Breanna and Skorupa, Tara and Carrell, David and Levitch, Denise and Hsu, Simon and Choi, Jiyoon and Ryten, Mina and Hardy, John and Trabzuni, Daniah and Weale, Michael E and Ramasamy, Adaikalavan and Smith, Colin and Sassi, Celeste and Bras, Jose and Gibbs, J. Raphael and Hernandez, Dena G and Lupton, Michelle K and Powell, John and Forabosco, Paola and Ridge, Perry G and Corcoran, Christopher D and Tschanz, Joann T and Norton, Maria C and Munger, Ronald G and Schmutz, Cameron and Leary, Maegan and Demirci, F. Yesim and Bamne, Mikhil N and Wang, Xingbin and Lopez, Oscar L and Ganguli, Mary and Medway, Christopher and Turton, James and Lord, Jenny and Braae, Anne and Barber, Imelda and Brown, Kristelle and Passmore, Peter and Craig, David and Johnston, Janet and McGuinness, Bernadette and Todd, Stephen and Heun, Reinhard and Kölsch, Heike and Kehoe, Patrick G and Hooper, Nigel M and Vardy, Emma R.L.C and Mann, David M and Pickering-Brown, Stuart and Kalsheker, Noor and Lowe, James and Morgan, Kevin and David Smith, A and Wilcock, Gordon and Warden, Donald and Holmes, Clive and Pastor, Pau and Lorenzo-Betancor, Oswaldo and Brkanac, Zoran and Scott, Erick and Topol, Eric and Rogaeva, Ekaterina and Singleton, Andrew B and Kamboh, M. Ilyas and St George-Hyslop, Peter and Cairns, Nigel and Morris, John C and Kauwe, John S. K and Goate, Alison M and Alzheimers Res UK ARUK Consortium and UKBEC and Alzheimer's Research UK (ARUK) Consortium
Nature, ISSN 0028-0836, 2014, Volume 505, Issue 7484, pp. 550 - 554
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e84192 - e84192
Journal Article
by Obeidat, Ma'en and Wain, Louise V and Shrine, Nick and Kalsheker, Noor and Artigas, Maria Soler and Repapi, Emmanouela and Burton, Paul R and Johnson, Toby and Ramasamy, Adaikalavan and Zhao, Jing Hua and Zhai, Guangju and Huffman, Jennifer E and Vitart, Veronique and Albrecht, Eva and Igl, Wilmar and Hartikainen, Anna-Liisa and Pouta, Anneli and Cadby, Gemma and Hui, Jennie and Palmer, Lyle J and Hadley, David and McArdle, Wendy L and Rudnicka, Alicja R and Barroso, Inês and Loos, Ruth J. F and Wareham, Nicholas J and Mangino, Massimo and Soranzo, Nicole and Spector, Tim D and Gläser, Sven and Homuth, Georg and Völzke, Henry and Deloukas, Panos and Granell, Raquel and Henderson, John and Grkovic, Ivica and Jankovic, Stipan and Zgaga, Lina and Polašek, Ozren and Rudan, Igor and Wright, Alan F and Campbell, Harry and Wild, Sarah H and Wilson, James F and Heinrich, Joachim and Imboden, Medea and Probst-Hensch, Nicole M and Gyllensten, Ulf and Johansson, Åsa and Zaboli, Ghazal and Mustelin, Linda and Rantanen, Taina and Surakka, Ida and Kaprio, Jaakko and Jarvelin, Marjo-Riitta and Hayward, Caroline and Evans, David M and Koch, Beate and Musk, Arthur William and Elliott, Paul and Strachan, David P and Tobin, Martin D and Sayers, Ian and Hall, Ian P and Consortium, SpiroMeta and SpiroMeta Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Institutionen för immunologi, genetik och patologi and Uppsala universitet
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 5, pp. e19382 - e19382
Rationale: Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic... 
PHOSPHODIESTERASE 4D GENE | OBSTRUCTIVE PULMONARY-DISEASE | ALPHA-ANTITRYPSIN DEFICIENCY | PDE4D | BIOLOGY | RISK | HEALTH | Biomarkers - metabolism | Genetic Predisposition to Disease | Genome-Wide Association Study | Meta-Analysis as Topic | Humans | Lung - physiopathology | Pulmonary Disease, Chronic Obstructive - epidemiology | Forced Expiratory Volume | Vital Capacity | Polymorphism, Single Nucleotide - genetics | Respiratory Function Tests | Genome, Human | United Kingdom - epidemiology | Pulmonary Disease, Chronic Obstructive - genetics | Medical research | Lung diseases, Obstructive | Prognosis | Mortality | Genes | Genomics | Genomes | Consortia | Analysis | Medicine, Experimental | Genetic aspects | Single nucleotide polymorphisms | Diagnosis | Health aspects | Health sciences | Respiratory function | Disease | Laboratories | Lung | Single-nucleotide polymorphism | Epidemiology | Literature reviews | ESR1 protein | Immunology | Genetics | Population | Chronic obstructive pulmonary disease | Bone density | Public health | Eigen values | Phosphodiesterase | Departments | Cytokines | Lung diseases | Environmental health | Marking | Metabolism | Loci | Morbidity | Asthma | Medicine | Studies | Pathology | Hospitals | Obstructive lung disease | Tagging | Sampling methods | Cancer | Smoking | Index Medicus | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
Hepatology, ISSN 0270-9139, 01/2008, Volume 47, Issue 1, pp. 127 - 132
Alpha 1 ‐antitrypsin deficiency (AATD) due to homozygosity of the protease inhibitor (Pi) Z variant predisposes to childhood liver disease and pulmonary... 
alpha 1-Antitrypsin Deficiency - genetics | Liver Diseases - genetics | alpha 1-Antitrypsin - genetics | Humans | Middle Aged | Risk Factors | Genotype | Infant | Male | Phenotype | Aged, 80 and over | Adult | Female | Aged | Polymorphism, Single Nucleotide | Infant, Newborn | Pulmonary Disease, Chronic Obstructive - genetics | Index Medicus
Journal Article