Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.

Item
http://www.wikidata.org/entity/Q40588691
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy geneAuditory neuropathy/dys-synchrony and its perceptual consequences.Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.Processes of de novo duplication of human alpha-globin genes.The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15qHomozygous SMN2 deletion is a protective factor in the Swedish ALS population.Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain.The tmp gene, encoding a membrane protein, is a c-Myc target with a tumorigenic activityPartial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies.Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
P2860

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.

Item
http://www.wikidata.org/entity/Q40588691
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
@en
type
label
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
@en
prefLabel
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
@en
P1433
P1476
P2093
P304
P31
P356
P478
P577
P698
P356
P1433
P1476
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
@en
P2093
P304
P31
P356
10.1093/HMG/3.SUPPL_1.1503
P478
P577
P698