Concepedia

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

René Santer, Sebastian Groth, Martina Kinner, Anja Dombrowski, Gerard T. Berry, Johannes Brodehl, James V. Leonard, Shimon Moses, Svante Norgren, Flemming Skovby,

Human Genetics · 2001 · 170 citations · 23 references

DOI

Concepts

References

23

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

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The HUGO Gene Nomenclature Committee (HGNC)

Sue Povey, Ruth C. Lovering, Elspeth A. Bruford et al. · Human Genetics · 2001 · 527 citations

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Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein.

Hirofumi Fukumoto, Susumu Seino, Hiroo Imura et al. · Proceedings of the National Academy of Sciences · 1988 · 425 citations · Full text

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Mammalian facilitative glucose transporters: Evidence for similar substrate recognition sites in functionally monomeric proteins

Charles Burant, Graeme I. Bell · Biochemistry · 1992 · 202 citations

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Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome

Dong Wang, Pamela Kranz‐Eble, Darryl C. De Vivo · Human Mutation · 2000 · 154 citations

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