A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
about
Tricellulin is a tight-junction protein necessary for hearing.Transient auditory nerve demyelination as a new mechanism for hidden hearing loss.Auditory neuropathy/dys-synchrony and its perceptual consequences.Loudness adaptation accompanying ribbon synapse and auditory nerve disorders.Gene expression associated with the onset of hearing detected by differential display in rat organ of CortiAt the speed of sound: gene discovery in the auditory systemThe 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.The PMP22 gene and its related diseases.Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Vestibular involvement in peripheral neuropathy: a review.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Exposure at the cell surface is required for gas3/PMP22 To regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.Myelin development, plasticity, and pathology in the auditory system.Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
P2860
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P2860
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A unique point mutation in the ...... ie-Tooth disease and deafness.
@ast
A unique point mutation in the ...... ie-Tooth disease and deafness.
@en
type
label
A unique point mutation in the ...... ie-Tooth disease and deafness.
@ast
A unique point mutation in the ...... ie-Tooth disease and deafness.
@en
prefLabel
A unique point mutation in the ...... ie-Tooth disease and deafness.
@ast
A unique point mutation in the ...... ie-Tooth disease and deafness.
@en
P2093
P2860
P356
P1476
A unique point mutation in the ...... ie-Tooth disease and deafness.
@en
P2093
B Llewellyn
K Campbell
M J Kovach
S Boyadjiev
V E Kimonis
P2860
P304
P356
10.1086/302420
P407
P577
1999-06-01T00:00:00Z