Found: 5
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A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Phylogenetic Analysis of the Friedreich Ataxia GAA Trinucleotide Repeat.
- Published in:
- Journal of Molecular Evolution, 2001, v. 52, n. 3, p. 232, doi. 10.1007/s002390010151
- By:
- Publication type:
- Article
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 51, doi. 10.1038/79171
- By:
- Publication type:
- Article
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.
- Published in:
- 2011
- By:
- Publication type:
- Other
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 19, p. 5962, doi. 10.1093/nar/gkh933
- By:
- Publication type:
- Article