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Guilherme Munhoz Essenfelder
Guilherme Munhoz Essenfelder
Genetics
Biology
Ectodermal dysplasia
Molecular biology
Missense mutation
6
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382
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Gene structure and promoter analysis of the human GJB6 gene encoding connexin30
2005
Gene
Guilherme Munhoz Essenfelder
Gaëlle Larderet
Gilles Waksman
Jérôme Lamartine
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Citations (24)
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity
2004
Human Molecular Genetics
Guilherme Munhoz Essenfelder
Roberto Bruzzone
Jérôme Lamartine
Anne Charollais
Claudine Blanchet Bardon
Michael T. Barbe
Paolo Meda
Gilles Waksman
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Citations (133)
Pathogenesis of hidrotic ectodermal dysplasia: the G11R mutation of Cx30 increases extracellular ATP levels due to abnormal hemichannel permeability
2004
Guilherme Munhoz Essenfelder
Jérôme Lamartine
Anne Charollais
Roberto Bruzzone
S. Oro
Claudine Blanchet Bardon
Paolo Meda
Gilles Waksman
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Connexins and hereditary human diseases
2001
M S-medecine Sciences
Guilherme Munhoz Essenfelder
J. Lamartine
Gilles Waksman
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