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

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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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cited_by cdi_FETCH-LOGICAL-c246t-3697a070a26b5247ef4b90de79ffbd3c061783d164de2ca70348a269299f74743
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container_end_page 867
container_issue 11
container_start_page 867
container_title European journal of pediatrics
container_volume 159
creator TSUDA, Masahiko
KITASAWA, Emiko
IDA, Hiroyuki
ETO, Yoshikatsu
OWADA, Misao
description
doi_str_mv 10.1007/s004310000600
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ispartof European journal of pediatrics, 2000-11, Vol.159 (11), p.867-867
issn 0340-6199
1432-1076
language eng
recordid cdi_proquest_journals_221936657
source Springer Link
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
title A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome
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