Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. (Q44124701)

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12 November 2019

title

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy (English)

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12 November 2019

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2

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12 November 2019

Carlo Dionisi-Vici

12

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12 November 2019

author name string

Anne-Marie Lamhonwah

1

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12 November 2019

Rodney J Pollitt

3

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12 November 2019

Christine Vianey-Saban

4

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12 November 2019

Priscille Divry

5

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12 November 2019

Nathalie Guffon

6

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12 November 2019

Guy T N Besley

7

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12 November 2019

Russell Onizuka

8

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12 November 2019

Linda J De Meirleir

9

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12 November 2019

Ljerka Cvitanovic-Sojat

10

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12 November 2019

Ivo Baric

11

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12 November 2019

Ksenija Fumic

13

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12 November 2019

Miljenka Maradin

14

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Ingrid Tein

15

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12 November 2019

publication date

1 August 2002

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American Journal of Medical Genetics Part A

12 November 2019

published in

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12 November 2019

volume

111

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12 November 2019

issue

3

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12 November 2019

page(s)

271-284

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12 November 2019

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https://api.crossref.org/works/10.1002%2FAJMG.10585

Carnitine--metabolism and functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

Structure of renal organic anion and cation transporters

21 January 2018

1 reference

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

21 January 2018

1 reference

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Carnitine deficiency induced by pivampicillin and pivmecillinam therapy

21 January 2018

1 reference

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

21 January 2018

1 reference

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Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene

21 January 2018

1 reference

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GFP-Human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with the carnitine transporter defect

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Sudden neonatal death in carnitine transporter deficiency.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10585

21 January 2018

Identifiers

DOI

10.1002/AJMG.10585

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12 November 2019

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