A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
about
Genetic studies of the Roma (Gypsies): a reviewOrigins and divergence of the Roma (gypsies)Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HSystematic genome-wide approach to positional candidate cloning for identification of novel human disease genes.Mutation history of the roma/gypsies.Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death.Diagnosis of Charcot-Marie-Tooth disease.HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.The role of the Vlax Roma in shaping the European Romani maternal genetic history.Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsiesVlax Roma history: what do coalescent-based methods tell us?
P2860
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P2860
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
description
2000 nî lūn-bûn
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2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@ast
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@en
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@nl
type
label
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@ast
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@en
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@nl
prefLabel
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@ast
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@en
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@nl
P2093
P2860
P356
P1476
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
@en
P2093
Angelicheva D
Chandler D
Gergelcheva V
Kalaydjieva L
P2860
P304
P356
10.1086/303053
P407
P577
2000-07-27T00:00:00Z