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5. Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection. Hernández Pérez JM; Ramos Díaz R; Fumero García S; Pérez Pérez JA Arch Bronconeumol; 2015 Jan; 51(1):e1-3. PubMed ID: 24673984 [TBL] [Abstract][Full Text] [Related]
6. A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency. Saunders DN; Tindall EA; Shearer RF; Roberson J; Decker A; Wilson JA; Hayes VM PLoS One; 2012; 7(12):e51762. PubMed ID: 23251618 [TBL] [Abstract][Full Text] [Related]
7. [Diagnosis of alpha-1 antitrypsin deficiency: limitations of rapid diagnostic laboratory tests]. Rodríguez-Frías F; Vila-Auli B; Homs-Riba M; Vidal-Pla R; Calpe-Calpe JL; Jardi-Margalef R Arch Bronconeumol; 2011 Aug; 47(8):415-7. PubMed ID: 21470755 [TBL] [Abstract][Full Text] [Related]
9. Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach. Belmonte I; Barrecheguren M; López-Martínez RM; Esquinas C; Rodríguez E; Miravitlles M; Rodríguez-Frías F Int J Chron Obstruct Pulmon Dis; 2016; 11():2535-2541. PubMed ID: 27877030 [TBL] [Abstract][Full Text] [Related]
10. Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants. Ljujic M; Topic A; Divac A; Nikolic A; Petrovic-Stanojevic N; Surlan M; Mitic-Milikic M; Radojkovic D Transl Res; 2008 May; 151(5):255-9. PubMed ID: 18433707 [TBL] [Abstract][Full Text] [Related]
11. [The clinical significance of hereditary and acquired alpha-1-antitrypsin deficiency in patients with liver cirrhosis and Wilson-Konovalov disease]. Shaposhnikova NA; Shuliat'ev IS; Varvanina GG; Drozdov VN Eksp Klin Gastroenterol; 2010; (10):12-6. PubMed ID: 21434364 [No Abstract] [Full Text] [Related]
12. Serum α1-Antitrypsin Concentration in the Diagnosis of α1-Antitrypsin Deficiency. Hurley K; O'Connor GT JAMA; 2018 May; 319(19):2034-2035. PubMed ID: 29800192 [No Abstract] [Full Text] [Related]
13. α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax. Greene DN; Procter M; Krautscheid P; Mao R; Lyon E; Grenache DG Chest; 2012 Jan; 141(1):239-241. PubMed ID: 22215832 [TBL] [Abstract][Full Text] [Related]
15. Diagnosis of α1-antitrypsin deficiency using capillary zone electrophoresis. Hejl CG; Chianea D; Riviere F; Sill J; Cuvelier I; Renard C; Plantamura J; Vest P Clin Chem Lab Med; 2015 Sep; 53(10):e271-3. PubMed ID: 25901718 [No Abstract] [Full Text] [Related]
16. Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis. Lodewyckx L; Vandevyver C; Vandervorst C; Van Steenbergen W; Raus J; Michiels L Hum Mutat; 2001 Sep; 18(3):243-50. PubMed ID: 11524735 [TBL] [Abstract][Full Text] [Related]
17. [Alpha-1 antitrypsin deficiency caused by Null mutation]. Perrin J; Aimone-Gastin I; Balduyck M; Mercy M; Filhine-Trésarrieu P; Odou MF; Chaouat A; Chabot F Rev Mal Respir; 2016 Sep; 33(7):612-7. PubMed ID: 26604020 [TBL] [Abstract][Full Text] [Related]
18. [Analysis of alpha-1-antitrypsin phenotypes and genotypes in patients with early-onset pulmonary emphysema]. Dwomiczak S; Ziora D; Konofalski L; Szalaty M; Kowalska A; Kozielski J Pneumonol Alergol Pol; 2005; 73(1):12-7. PubMed ID: 16539178 [TBL] [Abstract][Full Text] [Related]
19. [Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin]. Joly P; Francina A; Lacan P; Heraut J; Chapuis-Cellier C Ann Biol Clin (Paris); 2011; 69(5):571-6. PubMed ID: 22008137 [TBL] [Abstract][Full Text] [Related]
20. Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism. Milger K; Holdt LM; Teupser D; Huber RM; Behr J; Kneidinger N Int J Chron Obstruct Pulmon Dis; 2015; 10():891-7. PubMed ID: 26005342 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]