(Q50335655)

5 March 2018

title

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

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5 March 2018

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3

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Nicola Longo

series ordinal

4

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5 March 2018

author name string

Wang Y

series ordinal

1

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5 March 2018

Taroni F

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2

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5 March 2018

publication date

1 November 2000

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5 March 2018

published in

Human Mutation

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5 March 2018

volume

16

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5 March 2018

issue

5

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5 March 2018

page(s)

401-407

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5 March 2018

Canine brain glucose transporter 3: gene sequence, phylogenetic comparisons and analysis of functional sites

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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

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Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

21 January 2018

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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

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Facilitative glucose transporters

21 January 2018

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

21 January 2018

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Primary and secondary alterations of neonatal carnitine metabolism.

21 January 2018

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Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

21 January 2018

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Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

21 January 2018

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Cardiomyopathy associated with carnitine loss in kidneys and small intestine

21 January 2018

1 reference

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Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

21 January 2018

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10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J

21 January 2018

Identifiers

DOI

1 reference

5 March 2018

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5 March 2018