Načítá se...
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...
Uloženo v:
| Vydáno v: | BMC Res Notes |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2016
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|