메뉴 건너뛰기




Volumn 128, Issue 3, 2008, Pages 285-286

What does it take to call it a pathogenic mutation?

Author keywords

[No Author keywords available]

Indexed keywords

BRUTON TYROSINE KINASE;

EID: 49149114620     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2008.04.013     Document Type: Editorial
Times cited : (8)

References (12)
  • 2
    • 19144365482 scopus 로고    scopus 로고
    • Discordant phenotype in siblings with X-linked agammaglobulinemia
    • Bykowsky M.J., Haire R.N., Ohta Y., et al. Discordant phenotype in siblings with X-linked agammaglobulinemia. Am. J. Hum. Genet. 58 (1996) 477-483
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 477-483
    • Bykowsky, M.J.1    Haire, R.N.2    Ohta, Y.3
  • 4
    • 0034969091 scopus 로고    scopus 로고
    • A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency
    • Wood P.M., Mayne A., Joyce H., Smith C.I., Granoff D.M., and Kumararatne D.S. A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. J. Pediatr. 139 (2001) 148-151
    • (2001) J. Pediatr. , vol.139 , pp. 148-151
    • Wood, P.M.1    Mayne, A.2    Joyce, H.3    Smith, C.I.4    Granoff, D.M.5    Kumararatne, D.S.6
  • 6
    • 0032806334 scopus 로고    scopus 로고
    • Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)
    • Conley M.E., Notarangelo L.D., and Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin. Immunol. 93 (1999) 190-197
    • (1999) Clin. Immunol. , vol.93 , pp. 190-197
    • Conley, M.E.1    Notarangelo, L.D.2    Etzioni, A.3
  • 8
    • 17244367767 scopus 로고    scopus 로고
    • Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis
    • Mooney S. Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis. Briefing Bioinformatics 6 (2005) 44-56
    • (2005) Briefing Bioinformatics , vol.6 , pp. 44-56
    • Mooney, S.1
  • 9
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function
    • Ng P.C., and Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 12 (2002) 436-446
    • (2002) Genome Res. , vol.12 , pp. 436-446
    • Ng, P.C.1    Henikoff, S.2
  • 10
    • 34548274065 scopus 로고    scopus 로고
    • Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient
    • Perez de Diego R., Bravo J., Allende L.M., et al. Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient. Mol. Immunol. 45 (2008) 301-303
    • (2008) Mol. Immunol. , vol.45 , pp. 301-303
    • Perez de Diego, R.1    Bravo, J.2    Allende, L.M.3
  • 11
    • 0028183406 scopus 로고
    • X-linked agammaglobulinemia: new approaches to old questions based on the identification of the defective gene
    • Conley M.E., Parolini O., Rohrer J., and Campana D. X-linked agammaglobulinemia: new approaches to old questions based on the identification of the defective gene. Immunol. Rev. 138 (1994) 5-21
    • (1994) Immunol. Rev. , vol.138 , pp. 5-21
    • Conley, M.E.1    Parolini, O.2    Rohrer, J.3    Campana, D.4
  • 12
    • 32044473550 scopus 로고    scopus 로고
    • Genotype/phenotype correlations in X-linked agammaglobulinemia
    • Broides A., Yang W., and Conley M.E. Genotype/phenotype correlations in X-linked agammaglobulinemia. Clin. Immunol. 118 (2006) 195-200
    • (2006) Clin. Immunol. , vol.118 , pp. 195-200
    • Broides, A.1    Yang, W.2    Conley, M.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.