A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive featu...

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Hlavní autoři: Kovach, M J, Lin, J P, Boyadjiev, S, Campbell, K, Mazzeo, L, Herman, K, Rimer, L A, Frank, W, Llewellyn, B, Jabs, E W, Gelber, D, Kimonis, V E
Médium: Artigo
Jazyk:Inglês
Vydáno: 1999
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377901/
https://ncbi.nlm.nih.gov/pubmed/10330345
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