title: Mutations in GJB6 cause hidrotic ectodermal dysplasia.
authors.affiliation: Laboratoire de Génomique et Radiobiologie du Kératinocyte (EA 2541: Université d'Evry/CEA), Service de Génomique Fonctionnelle, Département de Radiobiologie et Radiopathologie, Evry, France.
authors.forename: J
authors.initials: J
authors.lastname: Lamartine
authors.forename: G
authors.initials: G
authors.lastname: Munhoz Essenfelder
authors.forename: Z
authors.initials: Z
authors.lastname: Kibar
authors.forename: I
authors.initials: I
authors.lastname: Lanneluc
authors.forename: E
authors.initials: E
authors.lastname: Callouet
authors.forename: D
authors.initials: D
authors.lastname: Laoudj
authors.forename: G
authors.initials: G
authors.lastname: Lemaître
authors.forename: C
authors.initials: C
authors.lastname: Hand
authors.forename: S J
authors.initials: SJ
authors.lastname: Hayflick
authors.forename: J
authors.initials: J
authors.lastname: Zonana
authors.forename: S
authors.initials: S
authors.lastname: Antonarakis
authors.forename: U
authors.initials: U
authors.lastname: Radhakrishna
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
authors.forename: A L
authors.initials: AL
authors.lastname: Christianson
authors.forename: A
authors.initials: A
authors.lastname: Pitaval
authors.forename: V
authors.initials: V
authors.lastname: Der Kaloustian
authors.forename: C
authors.initials: C
authors.lastname: Fraser
authors.forename: C
authors.initials: C
authors.lastname: Blanchet-Bardon
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: G
authors.initials: G
authors.lastname: Waksman
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001120:Arginine; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; C100629:Gjb6 protein, mouse; D001120:Arginine; D005998:Glycine