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Journal Abstract Search

612 related items for PubMed ID: 19021233

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  • 2. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.
    van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M, Scriver CR, Patrinos GP.
    Nucleic Acids Res; 2007 Jan; 35(Database issue):D690-5. PubMed ID: 17135191
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  • 4. Alpha-1 antitrypsin Null mutations and severity of emphysema.
    Fregonese L, Stolk J, Frants RR, Veldhuisen B.
    Respir Med; 2008 Jun; 102(6):876-84. PubMed ID: 18353624
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  • 6. Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.
    Tan EC, Loh M, Chuon D, Lim YP.
    Hum Mutat; 2006 Mar; 27(3):232-5. PubMed ID: 16429432
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  • 10. The novel human SHOX allelic variant database.
    Niesler B, Röth R, Wilke S, Fujimura F, Fischer C, Rappold G.
    Hum Mutat; 2007 Oct; 28(10):933-8. PubMed ID: 17726696
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  • 16. [Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel].
    Jardí R, Rodríguez-Frías F, Casas F, Cotrina M, Vidal R, Miravitlles M, Pascual C.
    Med Clin (Barc); 1997 Oct 11; 109(12):463-6. PubMed ID: 9441182
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  • 17. [Allelic frequency of the gene of alpha-1-antitrypsin in the general population in a county in Asturias].
    Blanco I, Fernández E, Rodríguez MC, Fernández A.
    Med Clin (Barc); 1999 Oct 02; 113(10):366-70. PubMed ID: 10562938
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  • 19. Identification of a new defective SERPINA1 allele (PI*Zla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern.
    Hernández-Pérez JM, Ramos-Díaz R, Pérez JA.
    Respir Med; 2017 Oct 02; 131():114-117. PubMed ID: 28947017
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  • 20. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting.
    Bull World Health Organ; 1997 Oct 02; 75(5):397-415. PubMed ID: 9447774
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