Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker… - Experimental eye …, 2006 - Elsevier
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to
three clinical USH types, namely USH1A-G, USH2A-C, USH3A (Davenport, SLH, Omenn,
GS, 1977. The heterogeneity of Usher syndrome. Vth Int. Conf. Birth Defects, Montreal; Petit,
C., 2001. Usher syndrome: from genetics to pathogenesis. Annu. Rev. Genomics Hum.
Genet. 2, 271–297). Mutations in USH type 1 genes cause the most severe form of USH. In …
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to
three clinical USH types, namely USH1A-G, USH2A-C, USH3A (Davenport, SLH, Omenn,
GS, 1977. The heterogeneity of Usher syndrome. Vth Int. Conf. Birth Defects, Montreal; Petit,
C., 2001. Usher syndrome: from genetics to pathogenesis. Annu. Rev. Genomics Hum.
Genet. 2, 271–297). Mutations in USH type 1 genes cause the most severe form of USH. In …
