Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

✍ Scribed by Brigitte Gilbert-Dussardier; Bertrand Segues; Jean-Michel Rozet; Daniel Rabier; Patrick Calvas; Lionel de Lumley; Jean-Paul Bonnefond; Arnold Munnich

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 308 KB
• Volume: 8
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1996)8:1<74::aid-humu11>3.0.co;2-o