Concepedia

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

Sébastien Lévesque, Charles Morin, Simon‐Pierre Guay, Josée Villeneuve, Pascale Marquis, Wing Yik, Sarn Jiralerspong, Luigi Bouchard, Steven J. Steinberg, Joseph G. Hacia,

BMC Medical Genetics · 2012 · 41 citations · 29 references

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29

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

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Field guide to next‐generation DNA sequencers

Travis C. Glenn · Molecular Ecology Resources · 2011 · 1.2K citations

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

S. Hebsgaard · Nucleic Acids Research · 1996 · 817 citations · Full text

Identification of a gene causing human cytochrome <i>c</i> oxidase deficiency by integrative genomics

Vamsi K. Mootha, Kathleen A. Miller, Jakob Bunkenborg et al. · Proceedings of the National Academy of Sciences · 2003 · 570 citations