Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
about
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Charcot-Marie-Tooth disease and intracellular trafficSequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Inherited peripheral neuropathies.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice.A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands.
P2860
Q24299375-C94FDD8F-5A1E-40F6-A01E-6D04C3DF6B50Q26824841-0E081D32-C45F-4A97-BBB6-D3EDADB02A49Q30399701-6E3AD042-3F34-4E42-9DDC-4C4468918705Q34996566-4260280A-F561-4DDC-A769-ABD851AC7468Q36822088-D8A2E0BC-A626-4E13-9D38-92A9336328DAQ38100659-F4638D8F-722F-4130-AE0E-A1ED8B8DF0B5Q38115571-4CD8FA82-84EA-4CE8-B397-93215E2E3ABFQ43156136-C11BD6C0-3E84-4B19-8A59-2B8AE6C2C948Q52330430-8F1DE310-2DA1-45B1-9B5F-912E63B8044E
P2860
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
description
2006 nî lūn-bûn
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2006 թուականի Մարտին հրատարակուած գիտական յօդուած
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2006 թվականի մարտին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
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2006年論文
@zh-tw
2006年论文
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name
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@ast
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@en
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@nl
type
label
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@ast
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@en
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@nl
prefLabel
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@ast
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@en
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@nl
P2093
P1433
P1476
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
@en
P2093
Hausmanowa-Petrusewicz I
Kabzinska D
Kostera-Pruszczyk A
Sherman DL
P304
P356
10.1212/01.WNL.0000201269.46071.35
P407
P577
2006-03-01T00:00:00Z