Concepedia

Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

Eduard Paschke, Ivica Milos, Heidemarie Kreimer-Erlacher, Gerald Höefler, Michael Beck, Maria Hoeltzenbein, Wim J. Kleijer, Thierry Levade, Helen Michelakakis, B. Radeva

Human Genetics · 2001 · 60 citations · 23 references

DOI

Concepts

References

23

[30] Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

Leonard S. Lerman, K. Silverstein · Methods in enzymology on CD-ROM/Methods in enzymology · 1987 · 484 citations

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The 67-kDa Enzymatically Inactive Alternatively Spliced Variant of β-Galactosidase Is Identical to the Elastin/Laminin-binding Protein

Salvatore Privitera, Catherine A. Prody, John W. Callahan et al. · Journal of Biological Chemistry · 1998 · 179 citations · Full text

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Alternative splicing of β-galactosidase mRNA generates the classic lysosomal enzyme and a β-galactosidase-related protein

Hans Morreau, Niels Galjart, Nynke Gillemans et al. · Journal of Biological Chemistry · 1989 · 142 citations · Full text

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Cloning, sequencing, and expression of cDNA for human β-galactosidase

Akihiro Oshima, Akihiko Tsuji, Yoshiro Nagao et al. · Biochemical and Biophysical Research Communications · 1988 · 133 citations

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Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Kunihiro Yoshida, Akihiko Oshima, Michie Shimmoto et al. · PubMed · 1991 · 109 citations

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