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A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-p23
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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
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Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2
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A mutation in OTOF, encoding otoferlin, a FER-1 like protein, causes DFNB9, a nonsyndromic form of deafness
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Yasunaga S., Grati M., Cohen-Salmon M., El-Amraoui A., Mustapha M., Salem N., El-Zir E., Loiselet J., Petit C. A mutation in OTOF, encoding otoferlin, a FER-1 like protein, causes DFNB9, a nonsyndromic form of deafness. Nat. Genet. 21:1999;363-369.
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