Open AccessLaboratory, Clinical and Genetic Characteristics of Cases with Chronic Granulomatous Diseases: the Erciyes University Experience
Author(s) -
Hatice Eke Güngör,
Türkan Patıroğlu,
Ekrem Ünal
Publication year - 2012
Publication title -
erciyes medical journal
Language(s) - Turkish
Resource type - Journals
SCImago Journal Rank - 0.101
H-Index - 11
ISSN - 1300-199X
DOI - 10.5152/etd.2012.36
Subject(s) - medicine , chronic granulomatous disease , immunology
OZET oksidaz enziminin gp91phox alt unitesini kodlayan CCYB genindeki hata sonucu olusurken, otozomal cekinik gecisli KGH ise enzim kompleksinin p22phox, p47phox, p67phox ya da p40phox alt birimini sirasiyla kodlayan CYBA, NCF-1, NCF-2 ve NCF-4 genlerinde meydana gelen hata sonucu olusur (2). Bu calisma ile merkezimizde KGH tanisi ile izlenen olgularin klinik tablolari, laboratuar bulgulari ve genetik ozelliklerinin belirlenmesi amaclandi.
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