A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred

✍ Scribed by D Landau; D Cohen; H Shalev; V Pinsk; B Yerushalmi; M Zeigler; O.S Birk

• Book ID: 116987497
• Publisher: Elsevier Science
• Year: 2004
• Tongue: English
• Weight: 465 KB
• Volume: 82
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2004.03.005