Congenital muscular dystrophy with merosin deficiency.

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🔗 View Article (PMID 8000914)

Published in C R Acad Sci III on April 01, 1994

Authors

F M Tomé1, T Evangelista, A Leclerc, Y Sunada, E Manole, B Estournet, A Barois, K P Campbell, M Fardeau

Author Affiliations

1: INSERM U. 153, Paris, France.

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Cloning and tissue-specific expression of the brain calcium channel beta-subunit. FEBS Lett (1991) 1.70

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