Loss-of-function mutations in TBC1d20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and male infertility; genetic analyses assigned the bs locus to mouse chromosome 2. In this study, we first positionally cloned the bs locus and...

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Bibliographic Details
Main Authors:	Liegel, R, Handley, M, Ronchetti, A, Brown, S, Langemeyer, L, Linford, A, Chang, B, Morris-Rosendahl, D, Carpanini, S, Posmyk, R, Harthill, V, Sheridan, E, Abdel-Salam, G, Terhal, P, Faravelli, F, Accorsi, P, Giordano, L, Pinelli, L, Hartmann, B, Ebert, A, Barr, F, Aligianis, I, Sidjanin, D
Format:	Journal article
Language:	English
Published:	2013

Loss-of-function mutations in TBC1d20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

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