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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
Nishino, I; Fu, J; Tanji, K; Yamada, T; Shimojo, S; Koori, T; Mora, M; Riggs, J E; Oh, S J; Koga, Y; Sue, C M; Yamamoto, A; Murakami, N; Shanske, S; Byrne, E; Bonilla, E; Nonaka, I; DiMauro, S; Hirano, M.
Affiliation
  • Nishino I; Department of Neurology, Columbia University, New York, New York 10032, USA. nishino@ncnp.go.jp
Nature ; 406(6798): 906-10, 2000 Aug 24.
Article in En | MEDLINE | ID: mdl-10972294
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Collection: 01-internacional Database: MEDLINE Main subject: X Chromosome / Membrane Glycoproteins / Lysosomal Storage Diseases / Muscular Diseases / Cardiomyopathies Type of study: Etiology_studies Limits: Female / Humans / Male Language: En Journal: Nature Year: 2000 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido
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Collection: 01-internacional Database: MEDLINE Main subject: X Chromosome / Membrane Glycoproteins / Lysosomal Storage Diseases / Muscular Diseases / Cardiomyopathies Type of study: Etiology_studies Limits: Female / Humans / Male Language: En Journal: Nature Year: 2000 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido