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R448 – Phex Mutation Causes Sensorineural Deafness in Mice

✍ Scribed by Gao Xia


Book ID
116814280
Publisher
SAGE Publications
Year
2008
Tongue
English
Weight
40 KB
Volume
139
Category
Article
ISSN
0194-5998

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We have detected a novel mitochondrial mutation in a maternal pedigree, at least 13 of whose members have sensorineural hearing loss of varying severity, but who exhibit no other pathological features. The mutation, at np 7445, converts the 3' terminal T residue of tRNA-ser(UCN) to a C, and also bri