Concepedia

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

Maria Cristina Rosatelli, Alessandra Meloni, Antonella Meloni, Marcella Devoto, Antonio Cao, Hamish S. Scott, Maarit Heino, Kai Krohn, Kentaro Nagamine, Jun Kudoh,

Human Genetics · 1998 · 245 citations · 21 references

DOI

Concepts

References

21

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

, , +17

Mutation of human short tandem repeats

J. L. Weber, Carmen Chak‐Lui Wong · Human Molecular Genetics · 1993 · 1.6K citations

, , +13

Positional cloning of the APECED gene

Kentaro Nagamine, Pärt Peterson, Hamish S. Scott et al. · Nature Genetics · 1997 · 1.4K citations

, , +10

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

Johanna Aaltonen, Petra Björses, Jaakko Perheentupa et al. · Nature Genetics · 1997 · 1.2K citations

, , +14