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Compound Heterozygote of a Novel Missense Mutation (p.K402T) and a Double Missense Mutation (p.[G71R;Y486D]) in Type II Crigler-Najjar Syndrome
Maruo, Yoshihiro, Ozgenc, Funda, Mimura, Yu, Ota, Yoriko, Matsui, Katsuyuki, Takahashi, Hiroko, Mori, Asami, Taga, Takashi, Takano, Tomoyuki, Sato, Hiroshi, Takeuchi, YoshihiroVolume:
52
Language:
english
Journal:
Journal of Pediatric Gastroenterology and Nutrition
DOI:
10.1097/mpg.0b013e3181fcafb8
Date:
March, 2011
File:
PDF, 147 KB
english, 2011