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Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation
BACKGROUND: Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191–194, 1998). The typical clinical picture is characte...
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| Опубликовано в: : | BMC Res Notes |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2016
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4973067/ https://ncbi.nlm.nih.gov/pubmed/27487919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-016-2184-2 |
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