A novel mutation mechanism, insertion of [Beta]-satellite repeats, in a transmembrane protease gene causes the autosomal recessive deafness DFNB10

Authors :: Scott, H.S.
Wattenhofer, M.
Shibuya, K.
Berry, A.
Kudoh, J.
Guipponi, M.
Kawasaki, K.
Asakawa, S.
Minoshima, S.
Papasavvas, M.P.
Rossier, C.
Chrast, R.
Korostishevsky, M.
Shimizu, N.
Bonne-Tamir, B.
Antonarakis, S.E.
Source :: American Journal of Human Genetics. Oct, 2000, Vol. 67 Issue 4, 13
Publication Year :: 2000

Subjects :: Proteases -- Genetic aspects
Deafness -- Genetic aspects
Gene mutations -- Research
Biological sciences

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