Concepedia

Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease

Ryoichi Kase, Uwe Bierfreund, Andreas Klein, Thomas Kolter, Kouichi Utsumi, Kohji Itoh, Konrad Sandhoff, Hitoshi Sakuraba

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2000 · 40 citations · 28 references

DOI

Concepts

References

28

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

Ulrich K. Laemmli · Nature · 1970 · 251.6K citations

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Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

John R. Riordan, Johanna M. Rommens, Bat-Sheva Kerem et al. · Science · 1989 · 7.4K citations

, , +12

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

Seng H. Cheng, Richard J. Gregory, John Marshall et al. · Cell · 1990 · 1.8K citations

, , +12

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

Andrej Hasilík, Elizabeth F. Neufeld · Journal of Biological Chemistry · 1980 · 805 citations · Full text

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An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

Shoichiro Nakao, Toshihiro Takenaka, Masato Maeda et al. · New England Journal of Medicine · 1995 · 765 citations · Full text

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