Nature Genetics
- 38, 1111 - 1113 (2006)
Published online: 3 September 2006; | doi:10.1038/ng1870
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico Zara, Roberta Biancheri, Claudio Bruno, Laura Bordo, Stefania Assereto, Elisabetta Gazzerro, Federica Sotgia, Xiao Bo Wang, Stefania Gianotti, Silvia Stringara, Marina Pedemonte, Graziella Uziel, Andrea Rossi, Angelo Schenone, Paolo Tortori-Donati, Marjo S van der Knaap, Michael P Lisanti & Carlo Minetti Supplementary Fig. 1 (pdf 156K)
Pedigrees and chromosome 7p21.1-p15.3 haplotypes in five HCC families. Supplementary Fig. 2 (pdf 388K)
Multiple sequence alignment of hyccin. Supplementary Fig. 3 (pdf 288K)
Expression analysis of DRCTNNB1A.
Supplementary Fig. 4 (pdf 64K)
Prediction of membrane-spanning regions of hyccin by TMpred. Supplementary Fig. 5 (pdf 116K)
Immunoblot analysis of transfected COS-7 cells. Supplementary Table 1 (pdf 72K)
Clinical and neurological findings. Supplementary Table 2 (pdf 64K)
Family-specific and cumulative lod scores for chromosome 7 markers. Supplementary Methods (pdf 104K)
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