WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case. [electronic resource]
Producer: 20140414Description: 288-91 p. digitalISSN:- 1879-0038
- Amino Acid Sequence
- Amino Acid Substitution
- Audiometry, Pure-Tone
- Base Sequence
- Connexin 26
- Connexins
- DNA -- genetics
- Endoplasmic Reticulum -- metabolism
- Exons
- Female
- Hearing Loss, Sensorineural -- genetics
- Humans
- Membrane Proteins -- chemistry
- Middle Aged
- Molecular Sequence Data
- Mutation, Missense
- Portugal
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Publication Type: Case Reports; Journal Article
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