Associated Papers
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C et al.
Human Mutation, 2002
Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
Yum SW et al.
Neurobiology of Disease, 2002
A novel connexin 30 mutation in Clouston syndrome.
Smith FJ et al.
The Journal of Investigative Dermatology, 2002
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
Ikegami T et al.
American Journal of Medical Genetics, 1998
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM et al.
American Journal of Human Genetics, 1998
A comment on the analysis of families with prelinqual deafness.
Kimberling S et al.
American Journal of Human Genetics, 1989
Select a paper to view details