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Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families
Background. Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected ca...
Autores principales: | Al-Haggar, Mohammad, Sakamoto, Osamu, Shaltout, Ali, El-Hawary, Amany, Wahba, Yahya, Abdel-Hadi, Dina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914128/ https://www.ncbi.nlm.nih.gov/pubmed/24533196 http://dx.doi.org/10.1155/2011/754369 |
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