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...

Descripción completa

Detalles Bibliográficos
Autores principales: Al-Haggar, Mohammad, Sakamoto, Osamu, Shaltout, Ali, El-Hawary, Amany, Wahba, Yahya, Abdel-Hadi, Dina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
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

Internet

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

Ejemplares similares