(Q45268163)

11 December 2017

title

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene (English)

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11 December 2017

Steven F Dobrowolski

1

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11 December 2017

Jason T McKinney

2

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11 December 2017

Cristina Amat di San Filippo

3

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11 December 2017

Keow Giak Sim

4

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11 December 2017

Bridget Wilcken

5

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11 December 2017

Nicola Longo

6

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11 December 2017

language of work or name

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1 March 2005

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11 December 2017

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11 December 2017

volume

25

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11 December 2017

issue

3

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11 December 2017

page(s)

306-313

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Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp

11 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Amplicon melting analysis with labeled primers: a closed-tube method for differentiating homozygotes and heterozygotes

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Primary and secondary alterations of neonatal carnitine metabolism.

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Phenotype and genotype variation in primary carnitine deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Detecting single base substitutions, mismatches and bulges in DNA by temperature gradient gel electrophoresis and related methods

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

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https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

High-resolution genotyping by amplicon melting analysis using LCGreen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20137

7 January 2021

Identifiers

DOI

10.1002/HUMU.20137

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11 December 2017

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