Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

✍ Scribed by Wen-Qi Zeng; Hanlin Gao; Louise Brueton; Tim Hutchin; George Gray; Anupam Chakrapani; Simon Olpin; Vivian E. Shih

• Book ID: 101454849
• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 155 KB
• Volume: 140A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.31186