Molecular basis of pyrimidine 5′-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations

✍ Scribed by Laurent R. Chiarelli; Simone M. Morera; Alessandro Galizzi; Elisa Fermo; Alberto Zanella; Giovanna Valentini

• Book ID: 116304476
• Publisher: Elsevier Science
• Year: 2008
• Tongue: English
• Weight: 580 KB
• Volume: 40
• Category: Article
• ISSN: 1079-9796
• DOI: 10.1016/j.bcmd.2007.10.005