Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.

Atefeh HeydariFarhad AbolnezhadianMahnaz Sadeghi-ShabestariAlihossein SaberiAhmad ShamsizadehAta A GhadiriPegah Ghandil

Published in: Journal of clinical laboratory analysis (2020)

Our results expand the genetic database of patients with X-CGD from Iran and make it much easier and faster to identify patients with X-CGD. Our results also help to detect carriers and enable prenatal diagnosis in high-risk families as a cost-effective strategy.

Keyphrases

genome wide
interstitial lung disease
adverse drug
copy number
electronic health record