| 1 | FBP1, FBP1D
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| Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
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| Kılıç M, Kasapkara ÇS, Yılmaz DY, Özgül RK.
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| Metab Brain Dis 34(5):1487-1491. doi: 10.1007/s11011-019-00455-8. Epub 2019 Jul 5.
2019
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| 2 | FBP1, FBP1D
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| Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
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| Bhai P, Bijarnia-Mahay S, Puri RD, Saxena R, Gupta D, Kotecha U, Sachdev A, Gupta D, Vyas V, Agarwal D, Jain V, Bansal RK, Kumar TG, Verma IC.
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| Ann Hum Genet 82(5):309-317. doi: 10.1111/ahg.12256. Epub 2018 May 18.
2018
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| 3 | FBP1, FBP1D
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| Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
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| Lebigot E, Brassier A, Zater M, Imanci D, Feillet F, Thérond P, de Lonlay P, Boutron A.
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| J Inherit Metab Dis 38(5):881-7. doi: 10.1007/s10545-014-9804-6. Epub 2015 Jan 20.
2015
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| 4 | FBP1, FBP1D
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| Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
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| Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH.
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| Eur J Pediatr 168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4.
2009
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| 5 | FBP1, FBP1D
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| Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
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| Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M.
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| Am J Hum Genet 61(4):852-61. 1997
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| 6 | FBP1, FBP1D
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| Identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency.
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| Kikawa Y, et al.
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| Biochem Biophys Res Commun 210 : 797-804. 1995
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