Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality-Reference-Cited by-同舟云学术

Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

Published:1999-08 Issue:2 Volume:261 Page:484-487
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Burwinkel Barbara,Kreuder Joachim,Schweitzer Susanne,Vorgerd Matthias,Gempel Klaus,Gerbitz Klaus-Dieter,Kilimann Manfred W.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference19 articles.

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

2. Myology;Di Donato,1994

3. The Metabolic and Molecular Bases of Inherited Disease;Roe,1995

4. Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2

5. Molecular Cloning and Characterization of High-Affinity Carnitine Transporter from Rat Intestine

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