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Volumn 122, Issue 1304, 2009, Pages 46-53

Customised molecular diagnosis of Primary Immune Deficiency disorders in New Zealand: An efficient strategy for a small developed country

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 70449516737     PISSN: None     EISSN: 11758716     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (18)

References (12)
  • 1
    • 34948872289 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
    • Geha R, Notarangelo L, Casanova J, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007;120:776-794
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 776-794
    • Geha, R.1    Notarangelo, L.2    Casanova, J.3
  • 2
    • 35548965046 scopus 로고    scopus 로고
    • Immunological and genetic bases of new primary immunodeficiencies
    • DOI 10.1038/nri2195, PII NRI2195
    • Maródi L, Notarangelo L. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol 2007;7:851-861 (Pubitemid 350006242)
    • (2007) Nature Reviews Immunology , vol.7 , Issue.11 , pp. 851-861
    • Marodi, L.1    Notarangelo, L.D.2
  • 3
    • 0029860098 scopus 로고    scopus 로고
    • Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: Detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand
    • Ameratunga R, McKee J, French J, et al. Molecular pathology of the X-linked hyperimmunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand. Clin Diagn Lab Immunol 1996;3:722-726 (Pubitemid 26388809)
    • (1996) Clinical and Diagnostic Laboratory Immunology , vol.3 , Issue.6 , pp. 722-726
    • Ameratunga, R.1    McKee, J.2    French, J.3    Prestidge, R.4    Fanslow, W.5    Marbrook, J.6
  • 4
    • 67449086899 scopus 로고    scopus 로고
    • Good laboratory practices for molecular genetic testing for heritable diseases and conditions
    • Chen B, Gagnon M, Shahangian S, et al. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep 2009;58:1-29.
    • (2009) MMWR Recomm Rep , vol.58 , pp. 1-29
    • Chen, B.1    Gagnon, M.2    Shahangian, S.3
  • 6
    • 13444301418 scopus 로고    scopus 로고
    • Development of population-based newborn screening for severe combined immunodeficiency
    • DOI 10.1016/j.jaci.2004.10.012
    • Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005;115:391-398 (Pubitemid 40215109)
    • (2005) Journal of Allergy and Clinical Immunology , vol.115 , Issue.2 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 8
    • 0037112347 scopus 로고    scopus 로고
    • Structure of the N-WASP EVH1 domain-WIP Complex: Insight into the molecular basis of Wiskott-Aldrich Syndrome
    • DOI 10.1016/S0092-8674(02)01076-0
    • Volkman B, Prehoda K, Scott J, et al. Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. Cell 2002;111:565-576 (Pubitemid 35356561)
    • (2002) Cell , vol.111 , Issue.4 , pp. 565-576
    • Volkman, B.F.1    Prehoda, K.E.2    Scott, J.A.3    Peterson, F.C.4    Lim, W.A.5
  • 11
    • 22844446842 scopus 로고    scopus 로고
    • Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort
    • DOI 10.1002/humu.20197
    • Roche O, Blanch A, Duponchel C, et al. Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum Mutat 2005;26:135-144 (Pubitemid 41040682)
    • (2005) Human Mutation , vol.26 , Issue.2 , pp. 135-144
    • Roche, O.1    Blanch, A.2    Duponchel, C.3    Fontan, G.4    Tosi, M.5    Lopez-Trascasa, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.