A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'

Marco Luigetti; Alessandra Bolino; Stefania Scarlino; Mario Sabatelli

doi:10.1111/jns5.12019

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'

Marco Luigetti
, Alessandra Bolino
, Stefania Scarlino
, Mario Sabatelli

Fondazione Telethon

Risultato della ricerca: Contributo in rivista › Articolo › peer review

6 Citazioni (Scopus)

Abstract

No abstract

Lingua originale	Inglese
pagine (da-a)	192-194
Numero di pagine	3
Rivista	Journal of the Peripheral Nervous System
Volume	18
DOI	https://doi.org/10.1111/jns5.12019
Stato di pubblicazione	Pubblicato - 2013

Keywords

Adult
Base Sequence
Charcot-Marie-Tooth Disease
Female
Homozygote
Humans
Male
Middle Aged
Mutation
Protein Tyrosine Phosphatases, Non-Receptor
Siblings

Accesso al documento

10.1111/jns5.12019

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@article{2c38006db024406ea233acbf086d48c5,

title = "A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'",

abstract = "No abstract",

keywords = "Adult, Base Sequence, Charcot-Marie-Tooth Disease, Female, Homozygote, Humans, Male, Middle Aged, Mutation, Protein Tyrosine Phosphatases, Non-Receptor, Siblings, Adult, Base Sequence, Charcot-Marie-Tooth Disease, Female, Homozygote, Humans, Male, Middle Aged, Mutation, Protein Tyrosine Phosphatases, Non-Receptor, Siblings",

author = "Marco Luigetti and Alessandra Bolino and Stefania Scarlino and Mario Sabatelli",

year = "2013",

doi = "10.1111/jns5.12019",

language = "English",

volume = "18",

pages = "192--194",

journal = "Journal of the Peripheral Nervous System",

issn = "1085-9489",

publisher = "Wiley-Blackwell Publishing Ltd",

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T1 - A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'

AU - Luigetti, Marco

AU - Bolino, Alessandra

AU - Scarlino, Stefania

AU - Sabatelli, Mario

PY - 2013

Y1 - 2013

N2 - No abstract

AB - No abstract

KW - Adult

KW - Base Sequence

KW - Charcot-Marie-Tooth Disease

KW - Female

KW - Homozygote

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Protein Tyrosine Phosphatases, Non-Receptor

KW - Siblings

KW - Adult

KW - Base Sequence

KW - Charcot-Marie-Tooth Disease

KW - Female

KW - Homozygote

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Protein Tyrosine Phosphatases, Non-Receptor

KW - Siblings

UR - http://hdl.handle.net/10807/86165

U2 - 10.1111/jns5.12019

DO - 10.1111/jns5.12019

M3 - Article

SN - 1085-9489

VL - 18

SP - 192

EP - 194

JO - Journal of the Peripheral Nervous System

JF - Journal of the Peripheral Nervous System

ER -

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'

Abstract

Keywords

Accesso al documento

Altri file e collegamenti

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