Mutations in GJB6 cause hidrotic ectodermal dysplasia
ContributorsLamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; Callouet, E.; Laoudj, D.; Lemaitre, G.; Hand, C.; Hayflick, S. J.; Zonana, J.; Antonarakis, Stylianos; Radhakrishna, U.; Kelsell, D. P.; Christianson, A. L.; Pitaval, A.; Der Kaloustian, V.; Fraser, C.; Blanchet-Bardon, C.; Rouleau, G. A.; Waksman, G.
Published inNature genetics, vol. 26, no. 2, p. 142-144
Publication date2000
Keywords
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Arginine
- Chromosome Mapping
- Chromosomes, Human, Pair 13
- Connexins/ genetics
- Ectodermal Dysplasia/ genetics
- Female
- Glycine
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Sequence Alignment
- Sequence Homology, Amino Acid
Affiliation entities
Citation (ISO format)
LAMARTINE, J. et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. In: Nature genetics, 2000, vol. 26, n° 2, p. 142–144. doi: 10.1038/79851
Main files (1)
Article
Identifiers
- PID : unige:8849
- DOI : 10.1038/79851
- PMID : 11017065
Additional URL for this publicationhttp://www.nature.com/ng/journal/v26/n2/pdf/ng1000_142.pdf
Journal ISSN1061-4036
