A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron

✍ Scribed by Marie Stasia; Pierre Bordigoni; Cécile Martel; Françoise Morel

• Book ID: 106133681
• Publisher: Springer
• Year: 2002
• Tongue: English
• Weight: 185 KB
• Volume: 110
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/s00439-002-0720-8