Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
about
The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and managementRe-emergence of hereditary polyneuropathy in Scandinavian Alaskan malamute dogs-old enemy or new entity? A case seriesAlternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
P2860
Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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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
Peripheral myelin protein 22 g ...... harcot-Marie-Tooth 1A disease.
@en
Peripheral myelin protein 22 g ...... harcot-Marie-Tooth 1A disease.
@nl
type
label
Peripheral myelin protein 22 g ...... harcot-Marie-Tooth 1A disease.
@en
Peripheral myelin protein 22 g ...... harcot-Marie-Tooth 1A disease.
@nl
prefLabel
Peripheral myelin protein 22 g ...... harcot-Marie-Tooth 1A disease.
@en
Peripheral myelin protein 22 g ...... harcot-Marie-Tooth 1A disease.
@nl
P2093
P1476
Peripheral myelin protein 22 g ...... harcot-Marie-Tooth 1A disease.
@en
P2093
Anne-Marie Guennoc
Benoît Funalot
Corinne Magdelaine
Jean-Michel Vallat
Julien Biberon
Laurence Richard
Meriem Tazir
Philippe Latour
Stéphane Mathis
William Camu
P304
P356
10.1016/J.NMD.2014.03.014
P577
2014-04-13T00:00:00Z