CYBB c.810G>A ;(p.W270*)

Variant ID: X-37660514-G-A

NM_000397.3(CYBB):c.810G>A;(p.W270*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Successful treatment of fungal osteomyelitis with voriconazole in a patient with chronic granulomatous disease.

Iranian Journal Of Pediatrics
Mohammadpour, Masoud M; Mamishi, Setareh S; Oaji, Mahsa M; Pourpak, Zahra Z; Parvaneh, Nima N
Publication Date: 2010-12

Variant appearance in text: CGD: 810G>A
PubMed Link: 23056752
Variant Present in the following documents:
  • Main text
  • IJPD-20-487.pdf
View BVdb publication page



Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CGD: 810G>A
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page