Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. [electronic resource]
Producer: 20020523Description: 1341-8 p. digitalISSN:- 0002-9297
- Base Sequence
- Connexin 26
- Connexins -- genetics
- Cornea -- metabolism
- Ectodermal Dysplasia -- genetics
- Epithelium -- metabolism
- Female
- Fluorescent Antibody Technique
- HeLa Cells
- Hearing Loss, Sensorineural -- genetics
- Heterozygote
- Humans
- Ichthyosis -- genetics
- Keratitis -- genetics
- Male
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Protein Transport
- Skin -- metabolism
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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