Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

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description

2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

@wuu

2002年学术文章

@zh-cn

2002年学术文章

@zh-hans

2002年学术文章

@zh-my

2002年学术文章

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2002年學術文章

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2002年學術文章

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2002年學術文章

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name

Novel OCTN2 mutations: no geno ...... erapy prevents cardiomyopathy.

@en

Novel OCTN2 mutations: no geno ...... erapy prevents cardiomyopathy.

@nl

type

Item

label

Novel OCTN2 mutations: no geno ...... erapy prevents cardiomyopathy.

@en

Novel OCTN2 mutations: no geno ...... erapy prevents cardiomyopathy.

@nl

prefLabel

Novel OCTN2 mutations: no geno ...... erapy prevents cardiomyopathy.

@en

Novel OCTN2 mutations: no geno ...... erapy prevents cardiomyopathy.

@nl

P1476

Novel OCTN2 mutations: no geno ...... herapy prevents cardiomyopathy

@en

P2093

Anne-Marie Lamhonwah

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Christine Vianey-Saban

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Guy T N Besley

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Ingrid Tein

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Ivo Baric

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Ksenija Fumic

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Linda J De Meirleir

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Ljerka Cvitanovic-Sojat

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Miljenka Maradin

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Nathalie Guffon

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P2860

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

The P-loop--a common motif in ATP- and GTP-binding proteins

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

Carnitine

P304

271-284

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P31

scholarly article

P356

10.1002/AJMG.10585

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P433

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P478

111

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P50

C Dionisi-Vici

Simon Olpin

P577

2002-08-01T00:00:00Z

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P698

12210323

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