Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome

• 1 January 2000
• journal article
• case report
• Published by Springer Nature in Journal of Human Genetics
• Vol. 45  (1) , 60-62
• https://doi.org/10.1007/s100380050013

Abstract

Keywords

• KEY WORDS FANCONI-BICKEL SYNDROME
• GLYCOGEN STORAGE DISEASE TYPE XI
• GLUCOSE TRANSPORTER 2
• NONSENSE MUTATION
• JAPANESE PATIENT