Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.

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Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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Clinical and Genetic Analysis ...... t-Marie-Tooth Disease Type 4C.

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Clinical and Genetic Analysis ...... t-Marie-Tooth Disease Type 4C.

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label

Clinical and Genetic Analysis ...... t-Marie-Tooth Disease Type 4C.

@en

Clinical and Genetic Analysis ...... t-Marie-Tooth Disease Type 4C.

@nl

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Clinical and Genetic Analysis ...... t-Marie-Tooth Disease Type 4C.

@en

Clinical and Genetic Analysis ...... t-Marie-Tooth Disease Type 4C.

@nl

P1476

Clinical and Genetic Analysis ...... t-Marie-Tooth Disease Type 4C.

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Kinsi Oberoi

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Leema Reddy Peddareddygari

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Raji P Grewal

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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.

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

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

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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

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

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.

Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

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38-44

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scholarly article

case report

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10.1159/000486589

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P433

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P478

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2018-01-01T00:00:00Z

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29515423

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India

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5836280

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