A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD)

✍ Scribed by Andreas Rump; Angela Rösen-Wolff; Manfred Gahr; Jürgen Seidenberg; Christian Roos; Lutz Walter; Viola Günther; Joachim Roesler

• Book ID: 116507418
• Publisher: Elsevier Science
• Year: 2006
• Tongue: English
• Weight: 645 KB
• Volume: 371
• Category: Article
• ISSN: 0378-1119
• DOI: 10.1016/j.gene.2005.11.036