1Dong W, Ryynanen M, Uitto J. 1993. Identification of a leueine - to - proline mutation in the keratin 5 gene in a family with the general- ized Koebner type of epidermolysis bullosa simplex. Human Muta- tion, 2(2): 94-102.
2Lane EB, Rugg EL, Navsaria H, et al. 1992. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature, 356(6366): 244-246.
3Chan Y, AntonLamprecht I, Yu QC, et al. 1994. A human keratin 14 knockout'." the absence of K14 leads to severe epidermolysis bullo- sa simplex and a function for an intermediate filament protein. Genes Development, 8 (21) : 2574 - 2587.
4Olbrieh H, Haffner K, Kispert A, et al. 2002. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left - right a- symmetry. Nature Genetics, 30(2) : 143 - 144.
5Failly M, Bartoloni L, Letourneau A, et al. 2009. Mutations in DNAH5 account for only 15% of a non - preselected cohort of pa- tients with primary ciliary dyskinesia. Journal of Medical Genetics, 46(4) : 281 -286.
6Knowles MR, Leigh MW, Ostrowski LE, et al. 2013. Exome se- quencing identifies mutations in CCDC114 as a eause of primary cili- ary dyskinesia. American Journal of Human Genetics, 92( 1 ) : 99 : 106.
4Brock R.Functional obstruction of the left ventricle (acquired aortic subvalvular stenosis).Guys Hosp Rep,1957,106(4):221-238.
5Teare D.Asymmetrical hypertrophy of the heart in young adults.BrHeart J,1958,20(1):1-8.
6Maron BJ,Shirani J,Poliac LC,Mathenge R,Roberts WC,Mueller FO.Sudden death in young competitive athletes:Clinical,demographic,and pathological profiles.JAMA,1996,276(3):199 204.
7Maron BJ,Towbin JA,Thiene G,Antzelevitch C,Corrado D,Arnett D,Moss AJ,Seidman CE,Young JB.Contemporary definitions and classification of the cardiomyopathies:an American Heart Association Scientific Statement from the Council on Clinical Cardiology,Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.Circulation,2006,113(14):1807-1816.
8Hershberger RE,Cowan J,Morales A,Siegfried JD.Progress with genetic cardiomyopathies:screening,counseling,and testing in dilated,hypertrophic,and arrhythmogenic right ventricular dysplasia/cardiomyopathy.Circ Heart Fail,2009,2(3):253-261.
2Hua M, Zhang W, Li W, et al. Molecular mechanisms regulating the establishment of hepatocyte polarity during human hepatic progeni- tor cell differentiation into a functional hepatocyte-like phenotype [J]. J Cell Sci,2012,125(Pt 23) :5800 -5810.
