Concepedia

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Timo Imbach, Stephanie Grünewald, Barbara Schenk, Patricie Burda, Els Schollen, Ron A. Wevers, Jaak Jaeken, Johannis B.C. de Klerk, Eric G. Berger, Gert Matthijs,

Human Genetics · 2000 · 66 citations · 24 references

DOI

Concepts

References

24

Yeast/<i>E. coli</i> shuttle vectors with multiple unique restriction sites

John E. Hill, Alan M. Myers, T J Koerner et al. · Yeast · 1986 · 1.4K citations

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A first-generation physical map of the human genome

Daniel Cohen, Ilya Chumakov, Jean Weissenbach · Nature · 1993 · 443 citations

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Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

R Niehues, Martin Hasilik, Gordon Alton et al. · Journal of Clinical Investigation · 1998 · 428 citations · Full text

, , +11

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 365 citations

, , +11

STT3, a highly conserved protein required for yeast oligosaccharyl transferase activity in vivo.

Romain Zufferey, Roland Knauer, Patricie Burda et al. · The EMBO Journal · 1995 · 189 citations · Full text

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