Danon disease: A novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression-Reference-Cited by-同舟云学术

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Danon disease: A novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression

Published:2008-12 Issue:12 Volume:18 Page:962-966
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Di Blasi Claudia,Jarre Laura,Blasevich Flavia,Dassi Patrizia,Mora Marina

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference22 articles.

1. Lysosomal glycogen storage disease with normal acid maltase;Danon;Neurology,1981

2. Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease;Laforêt;Neurology,2004

3. Ophthalmic manifestations of Danon disease;Prall;Ophthalmology,2006

4. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease);Nishino;Nature,2000

5. Different steady state subcellular distributions of the three splice variants of lysosome-associated membrane protein LAMP-2 are determined largely by the COOH-terminal amino acid residue;Gough;J Cell Biol,1997

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