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Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

✍ Scribed by Dr James M. Killian; H. Warner Kloepfer


Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
766 KB
Volume
5
Category
Article
ISSN
0364-5134

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Correlation between connexin 32 gene mut
✍ Ionasescu, Victor; Ionasescu, Rebecca; Searby, Charles πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 44 KB πŸ‘ 2 views

We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense