Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease

Koker, MUSTAFA; Van Leeuwen, K.; De Boer, M.; Celmeli, F.; Metin, Ahmet; Oezguer, T.; Tezcan, I.; Sanal, O.; Roos, D.

doi:10.1111/j.1365-2362.2009.02093.x

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease

Atıf İçin Kopyala

Koker M. Y., Van Leeuwen K., De Boer M., Celmeli F., Metin A., Oezguer T. T., ...Daha Fazla

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, cilt.39, sa.4, ss.311-319, 2009 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 39 Sayı: 4
Basım Tarihi: 2009
Doi Numarası: 10.1111/j.1365-2362.2009.02093.x
Dergi Adı: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.311-319
Anahtar Kelimeler: Chronic granulomatous disease, consanguineous marriages, CYBA, DHR assay, immunodeficiency, p22-phox, SPLICE-SITE MUTATION, NADPH OXIDASE, CYTOCHROME-B, LIGHT CHAIN, P22-PHOX, NEUTROPHILS, HETEROGENEITY, NOMENCLATURE, ACTIVATION, LOCATION
Erciyes Üniversitesi Adresli: Hayır

Özet

One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the CYBA gene, which encodes the alpha polypeptide of cytochrome b(558), (also known as p22-phox), a key transmembrane protein in the phagocyte NADPH oxidase system. This gene is localized on chromosome 16q24, encompasses 8.5 kb and contains six exons.