Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.

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Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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Factors Affecting Phenotype Va ...... B: Gender and LRSAM1 Genotype.

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Factors Affecting Phenotype Va ...... B: Gender and LRSAM1 Genotype.

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Item

label

Factors Affecting Phenotype Va ...... B: Gender and LRSAM1 Genotype.

@en

Factors Affecting Phenotype Va ...... B: Gender and LRSAM1 Genotype.

@nl

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Factors Affecting Phenotype Va ...... B: Gender and LRSAM1 Genotype.

@en

Factors Affecting Phenotype Va ...... B: Gender and LRSAM1 Genotype.

@nl

P1476

Factors Affecting Phenotype Va ...... B: Gender and LRSAM1 Genotype.

@en

P2093

Jaasrini Reddy Vellore

http://www.w3.org/2001/XMLSchema#string

Kinsi Oberoi

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Leema Reddy Peddareddygari

http://www.w3.org/2001/XMLSchema#string

Raji P Grewal

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P2860

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease

RILP is required for the proper morphology and function of late endosomes

Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

Rab7: a key to lysosome biogenesis

Role for Rab7 in maturation of late autophagic vacuoles

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

Rab 7: an important regulator of late endocytic membrane traffic

P304

120-126

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P31

scholarly article

case report

P356

10.1159/000446872

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P433

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P478

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P577

2016-05-01T00:00:00Z

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27462242

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P932

4939679

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