A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

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Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.

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P2860

A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

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2015 nî lūn-bûn

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2015年学术文章

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2015年学术文章

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@zh-my

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2015年學術文章

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A novel SLC6A8 mutation associ ...... eatine transporter deficiency.

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type

Item

label

A novel SLC6A8 mutation associ ...... eatine transporter deficiency.

@en

prefLabel

A novel SLC6A8 mutation associ ...... eatine transporter deficiency.

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P1476

A novel SLC6A8 mutation associ ...... eatine transporter deficiency.

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P2093

Cristina Cervera-Acedo

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Jana Aguirre-Lamban

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

Maria Luisa Poch-Olive

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

Paula Santibañez

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P2860

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

High prevalence of SLC6A8 deficiency in X-linked mental retardation

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

P2888

hgv.2015.37

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scholarly article

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10.1038/HGV.2015.37

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P478

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Maria López

Alberto García Oguiza

Elena Domínguez-Garrido

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2015-10-29T00:00:00Z

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283974001

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1016645961

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27081545

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4785581

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A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

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P2860

P2860

A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P6179

P698

P932