Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood-Reference-Cited by-同舟云学术

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Published:2008-10 Issue:4 Volume:83 Page:489-494
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Zeharia Avraham,Shaag Avraham,Houtkooper Riekelt H.,Hindi Tareq,de Lonlay Pascale,Erez Gilli,Hubert Laurence,Saada Ann,de Keyzer Yves,Eshel Gideon,Vaz Frédéric M.,Pines Ophry,Elpeleg Orly

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Metabolic myopathies;Dubowitz,1995

2. Recurrent childhood myoglobinuria;Tein;Adv. Pediatr.,1990

3. Metabolic causes of myoglobinuria;Tonin;Ann. Neurol.,1990

4. Deleterious mutation in the mitochondrial arginyl-tRNA synthetase gene is associated with ponto-cerebellar hypoplasia;Edvardson;Am. J. Hum. Genet.,2007

5. The fatty liver dystrophy (fld) mutation. A new mutant mouse with a developmental abnormality in triglyceride metabolism and associated tissue-specific defects in lipoprotein lipase and hepatic lipase activities;Langner;J. Biol. Chem.,1989

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