Concepedia

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

Toshiyuki Yamamoto, Eiji Nanba, Haruaki Ninomiya, Katsumi Higaki, Miyako Taniguchi, Haidi Zhang, Shinjiro Akaboshi, Yasuhiro Watanabe, Takao Takeshima, Koji Inui,

Human Genetics · 1999 · 87 citations · 13 references

DOI

Concepts

References

13

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

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Human Homolog of <b> <i>patched</i> </b> , a Candidate Gene for the Basal Cell Nevus Syndrome

Ronald L. Johnson, Alana Rothman, Jingwu Xie et al. · Science · 1996 · 1.9K citations

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Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

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Sterol Resistance in CHO Cells Traced to Point Mutation in SREBP Cleavage–Activating Protein

Xianxin Hua, Axel Nohturfft, Joseph L. Goldstein et al. · Cell · 1996 · 476 citations · Full text

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Nucleotide sequence of 3-hydroxy-3-methyl-glutaryl coenzyme A reductase, a glycoprotein of endoplasmic reticulum

Daniel J. Chin, Gregorio Gil, David W. Russell et al. · Nature · 1984 · 266 citations

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