Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

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description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Screening for SH3TC2 gene muta ...... ot-Marie-Tooth disease (CMT4).

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type

Item

label

Screening for SH3TC2 gene muta ...... ot-Marie-Tooth disease (CMT4).

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prefLabel

Screening for SH3TC2 gene muta ...... ot-Marie-Tooth disease (CMT4).

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P1476

Screening for SH3TC2 gene muta ...... ot-Marie-Tooth disease (CMT4).

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P2093

Claudia Gandioli

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Daniela D Bella

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Davide Pareyson

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Franco Taroni

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Michela Morbin

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Paola Saveri

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Stefania Magri

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P2860

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes.

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142-149

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scholarly article

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10.1111/JNS.12175

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P478

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Giuseppe Piscosquito

Claudia Ciano

Isabella Moroni

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2016-05-27T00:00:00Z

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27231023

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5592964

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