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Volumn 21, Issue 6, 2015, Pages 341-343

Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele

Author keywords

Alpha 1 antitrypsin deficiency; COPD; Null allele

Indexed keywords

ALPHA 1 ANTITRYPSIN; AMINOPHYLLINE; BUDESONIDE; CARBON MONOXIDE; FORMOTEROL; TIOTROPIUM BROMIDE;

EID: 85009265631     PISSN: None     EISSN: 21735115     Source Type: Journal    
DOI: 10.1016/j.rppnen.2015.07.002     Document Type: Article
Times cited : (4)

References (13)
  • 1
    • 68949209705 scopus 로고    scopus 로고
    • Alpha-1 antitrypsin deficiency. The experience of Pulido Valente Hospital with augmentation therapy
    • Costa CA, Santos C. Alpha-1 antitrypsin deficiency. The experience of Pulido Valente Hospital with augmentation therapy. RevPort Pneumol. 2009;15(3):473-82.
    • (2009) Revport Pneumol , vol.15 , Issue.3 , pp. 473-482
    • Costa, C.A.1    Santos, C.2
  • 2
    • 84902153645 scopus 로고    scopus 로고
    • Role of alpha-1 antitrypsin in human health and disease
    • de Serres F, Blanco I. Role of alpha-1 antitrypsin in human health and disease. J Intern Med. 2014;276(4):311-35.
    • (2014) J Intern Med , vol.276 , Issue.4 , pp. 311-335
    • De Serres, F.1    Blanco, I.2
  • 3
    • 0141706635 scopus 로고    scopus 로고
    • European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha1-antitrypsin deficiency
    • American Thoracic Society
    • American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
    • (2003) Am J Respir Crit Care Med , vol.168 , pp. 818-900
  • 5
    • 0036433482 scopus 로고    scopus 로고
    • Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency
    • de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency. Chest. 2002;122:1818-29.
    • (2002) Chest , vol.122 , pp. 1818-1829
    • De Serres, F.J.1
  • 6
    • 84928882668 scopus 로고    scopus 로고
    • Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: An update
    • Casas F, Blanco I, Martínez MT, Bustamante A, Miravitlles M, Cadenas S, et al. Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update. Arch Bronconeumol. 2015;51:185-92.
    • (2015) Arch Bronconeumol , vol.51 , pp. 185-192
    • Casas, F.1    Blanco, I.2    Martínez, M.T.3    Bustamante, A.4    Miravitlles, M.5    Cadenas, S.6
  • 7
    • 84881617133 scopus 로고    scopus 로고
    • Prevalência da doença pulmonar obstrutiva crónica emLisboa, Portugal: Estudo Burden of Obstructive Lung Disease
    • Bárbara C, Rodrigues F, Dias H, Cardoso J, Almeida J, Matos MJ, et al. Prevalência da doença pulmonar obstrutiva crónica emLisboa, Portugal: estudo Burden of Obstructive Lung Disease. Rev Port Pneumol. 2013;19:96-105.
    • (2013) Rev Port Pneumol , vol.19 , pp. 96-105
    • Bárbara, C.1    Rodrigues, F.2    Dias, H.3    Cardoso, J.4    Almeida, J.5    Matos, M.J.6
  • 8
    • 84859602481 scopus 로고    scopus 로고
    • Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: Clinical features, haplotype characterization and history
    • Rodrigues LV, Costa F, Marques P, Mendonça C, Rocha J, Seixas S. Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele:clinical features, haplotype characterization and history. ClinGenet. 2012;81:462-9.
    • (2012) Clingenet , vol.81 , pp. 462-469
    • Rodrigues, L.V.1    Costa, F.2    Marques, P.3    Mendonça, C.4    Rocha, J.5    Seixas, S.6
  • 9
    • 0032920910 scopus 로고    scopus 로고
    • Multiplex PCR assay for the detection of genetic variants of alpha1-antitrypsin
    • Rieger S, Riemer H, Mannhalter C. Multiplex PCR assay for the detection of genetic variants of alpha1-antitrypsin. Clin Chem.1999;45:688-90.
    • (1999) Clin Chem , vol.45 , pp. 688-690
    • Rieger, S.1    Riemer, H.2    Mannhalter, C.3
  • 10
    • 84878799611 scopus 로고    scopus 로고
    • Predicting functional effect of human missense mutations using PolyPhen-2
    • Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr ProtocHum Genet. 2013. Chapter 7:Unit7.20.
    • (2013) Curr Protochum Genet , vol.7
    • Adzhubei, I.1    Jordan, D.M.2    Sunyaev, S.R.3
  • 11
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoSONE. 2012;7(10):e46688.
    • (2012) Plosone , vol.7 , Issue.10
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3    Miller, J.R.4    Chan, A.P.5
  • 12
    • 84897456458 scopus 로고    scopus 로고
    • Mutation-Taster2: Mutation prediction for the deep-sequencing age
    • Schwarz JM, Cooper DN, Schuelke M, Seelow D. Mutation-Taster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361-2.
    • (2014) Nat Methods , vol.11 , Issue.4 , pp. 361-362
    • Schwarz, J.M.1    Cooper, D.N.2    Schuelke, M.3    Seelow, D.4
  • 13
    • 0029589824 scopus 로고
    • What do dysfunctional serpins tell usabout molecular mobility and disease?
    • Stein PE, Carrell RW. What do dysfunctional serpins tell usabout molecular mobility and disease? Nat Struct Biol. 1995;2:96-113.
    • (1995) Nat Struct Biol , vol.2 , pp. 96-113
    • Stein, P.E.1    Carrell, R.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.