Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.

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Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

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2017年论文

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2017年论文

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Identification of Pathogenic V ...... n Patients With Choroideremia.

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Identification of Pathogenic V ...... n Patients With Choroideremia.

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Identification of Pathogenic V ...... n Patients With Choroideremia.

@en

Identification of Pathogenic V ...... n Patients With Choroideremia.

@nl

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Identification of Pathogenic V ...... n Patients With Choroideremia.

@en

Identification of Pathogenic V ...... n Patients With Choroideremia.

@nl

P1476

Identification of Pathogenic V ...... n Patients With Choroideremia.

@en

P2093

Byoung Joon Kim

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Chung Lee

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Ju Sun Song

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Kunho Bae

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Nayoung K D Kim

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Sang Jin Kim

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P2860

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia.

Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product.

Molecular genetic diagnostic techniques in choroideremia.

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.

A case of choroideremia with recurrent anterior uveitis.

The functional effect of pathogenic mutations in Rab escort protein 1.

Choroideremia. Study of a family and literature review.

Rab GTPases: master regulators of membrane trafficking.

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

P304

438-442

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P31

scholarly article

case report

P356

10.3343/ALM.2017.37.5.438

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P433

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

P478

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P50

Chang-Seok Ki

Woong-Yang Park

P577

2017-09-01T00:00:00Z

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P698

28643494

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P932

5500744

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