A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseDeciphering peripheral nerve myelination by using Schwann cell expression profiling.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyMolecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.Mutations in the LMNA gene do not cause axonal CMT in Czech patients.Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsGene Admixture in the Costa Rican Population
P2860
Q24632769-6242A24D-0366-473A-AF26-07E84D2168BCQ34066520-11C9EA10-498C-458A-8482-782B0F9568F7Q35984327-EA27419C-4D68-4EEC-9669-ADCC0A978A92Q36507152-03D898D5-BAF8-4E99-9C62-37057378C2AFQ37843794-F7413BD5-6EEC-453A-8900-53BBDCD4C378Q38115571-2B3F994B-81EA-4CF7-A23A-E9305F3CBC88Q45891394-B621AFCA-4022-48A2-A58B-B815656A0ACCQ47856873-0168FCD2-5356-4E31-973E-DA757E15E065Q53019003-11B5218F-36D8-4FD9-96B6-02074C983F0FQ55670527-EED0880D-9027-46D4-B62D-08F616DC9A64Q55893724-A3A4BA56-2E3F-4131-B6B8-8F139ABF7C61
P2860
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
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2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@ast
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@en
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@nl
type
label
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@ast
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@en
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@nl
prefLabel
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@ast
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@en
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@nl
P2093
P2860
P50
P356
P1476
A second locus for an axonal f ...... se maps to chromosome 19q13.3.
@en
P2093
B Neundörfer
B Rautenstrauss
Del Valle G
E Hernández
H C Hennies
M Berghoff
R Barrantes
P2860
P304
P356
10.1086/316934
P407
P577
2000-12-07T00:00:00Z