Identification of Alu-mediated, large deletion-spanning introns 19–26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)

✍ Scribed by Toshiyuki Fukao; Gaixiu Zhang; Yusuke Aoki; Takahiro Arai; Takahide Teramoto; Hideo Kaneko; Hideo Sugie; Naomi Kondo

• Book ID: 116988013
• Publisher: Elsevier Science
• Year: 2007
• Tongue: English
• Weight: 429 KB
• Volume: 92
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2007.05.007