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

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

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http://www.wikidata.org/entity/Q28141397
Disorders of carnitine transport and the carnitine cycleMolecular and functional characterization of organic cation/carnitine transporter family in miceXenobiotic, bile acid, and cholesterol transporters: function and regulation.Metabolic cardiomyopathies.Role of carnitine in diseaseGenotype-phenotype correlation in primary carnitine deficiencyStrategies to assess the drug interaction potential in translational medicine.Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.Carnitine transport and fatty acid oxidation.Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.Phenotype and genotype variation in primary carnitine deficiency.Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2.Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.OCTN3: A Na+-independent L-carnitine transporter in enterocytes basolateral membrane.Functional and molecular studies in primary carnitine deficiency.Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
P2860

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

Item
http://www.wikidata.org/entity/Q28141397
description
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2000
@ast
im Jahr 2000 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: 2000)
@en
wetenschappelijk artikel (gepubliceerd in 2000-01)
@nl
наукова стаття, опублікована в січні 2000
@uk
مقالة علمية (نشرت عام 2000)
@ar
name
Two novel missense mutations o ...... systemic carnitine deficiency
@ast
Two novel missense mutations o ...... systemic carnitine deficiency
@en
Two novel missense mutations o ...... systemic carnitine deficiency
@nl
type
label
Two novel missense mutations o ...... systemic carnitine deficiency
@ast
Two novel missense mutations o ...... systemic carnitine deficiency
@en
Two novel missense mutations o ...... systemic carnitine deficiency
@nl
prefLabel
Two novel missense mutations o ...... systemic carnitine deficiency
@ast
Two novel missense mutations o ...... systemic carnitine deficiency
@en
Two novel missense mutations o ...... systemic carnitine deficiency
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Two novel missense mutations o ...... systemic carnitine deficiency
@en
P2093
P304
P31
P356
10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8
P407
P433
P478
P577
P698
P921