A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome

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Bibliographic Details
Published in:European journal of pediatrics 2000-11, Vol.159 (11), p.867-867
Main Authors: TSUDA, Masahiko, KITASAWA, Emiko, IDA, Hiroyuki, ETO, Yoshikatsu, OWADA, Misao
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biological Transport
Carbohydrates (enzymatic deficiencies). Glycogenosis
Child, Preschool
Errors of metabolism
Fanconi Syndrome - diagnosis
Fanconi Syndrome - genetics
Gene Expression - genetics
Glycogen - metabolism
Humans
Liver - metabolism
Male
Medical sciences
Metabolic diseases
Mutation, Missense - genetics
Point Mutation - genetics
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ISSN:0340-6199
1432-1076
DOI:10.1007/s004310000600