Functional and molecular studies in primary carnitine deficiency.

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Functional and molecular studies in primary carnitine deficiency.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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name

Functional and molecular studies in primary carnitine deficiency.

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Functional and molecular studies in primary carnitine deficiency.

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Functional and molecular studies in primary carnitine deficiency.

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Functional and molecular studies in primary carnitine deficiency.

@nl

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Functional and molecular studies in primary carnitine deficiency.

@en

Functional and molecular studies in primary carnitine deficiency.

@nl

P1476

Functional and molecular studies in primary carnitine deficiency.

@en

P2093

Bijina Balakrishnan

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Fernanda R O Calderon

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Marta Frigeni

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Marzia Pasquali

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Rong Mao

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

Xue Yin

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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

Disorders of carnitine transport and the carnitine cycle

Analysis of protein-coding genetic variation in 60,706 humans

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

Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

P304

1684-1699

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P31

scholarly article

P356

10.1002/HUMU.23315

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P433

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

P478

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P50

Nicola Longo

P577

2017-08-25T00:00:00Z

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P698

28841266

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P932

5665702

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