De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. [electronic resource]
Producer: 20030520Description: 89-91 p. digitalISSN:- 1552-4825
- Abnormalities, Multiple -- genetics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Connexin 26
- Connexins -- genetics
- DNA -- chemistry
- DNA Mutational Analysis
- Deafness -- pathology
- Family Health
- Female
- Humans
- Ichthyosis -- pathology
- Keratitis -- pathology
- Molecular Sequence Data
- Mutation
- Pedigree
- Sequence Homology, Amino Acid
- Syndrome
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Publication Type: Case Reports; Letter
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