Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
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The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.Towards a functional pathology of hereditary neuropathies.Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.Fontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy
P2860
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
description
2014 nî lūn-bûn
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2014年の論文
@ja
2014年学术文章
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2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
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2014年學術文章
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2014年學術文章
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name
Mutation analysis of MFN2, GJB ...... l Charcot-Marie-Tooth disease.
@en
Mutation analysis of MFN2, GJB ...... l Charcot-Marie-Tooth disease.
@nl
type
label
Mutation analysis of MFN2, GJB ...... l Charcot-Marie-Tooth disease.
@en
Mutation analysis of MFN2, GJB ...... l Charcot-Marie-Tooth disease.
@nl
prefLabel
Mutation analysis of MFN2, GJB ...... l Charcot-Marie-Tooth disease.
@en
Mutation analysis of MFN2, GJB ...... l Charcot-Marie-Tooth disease.
@nl
P2093
P2860
P50
P1476
Mutation analysis of MFN2, GJB ...... l Charcot-Marie-Tooth disease.
@en
P2093
Chiara Briani
Elena Pegoraro
Giovanni Vazza
Maria Luisa Mostacciuolo
Mario Cacciavillani
P2860
P2888
P304
P356
10.1007/S12017-014-8307-9
P577
2014-05-13T00:00:00Z
P5875
P6179
1028025958