Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families

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...

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Bibliografiska uppgifter
Huvudupphovsmän: Mohammad Al-Haggar, Osamu Sakamoto, Ali Shaltout, Amany El-Hawary, Yahya Wahba, Dina Abdel-Hadi
Materialtyp: Artikel
Språk:English
Publicerad: Hindawi Limited 2011-01-01
Serie:Case Reports in Nephrology
Länkar:http://dx.doi.org/10.1155/2011/754369

Internet

http://dx.doi.org/10.1155/2011/754369

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