A Heterozygous Splice Site Mutation in COL6A1 Leading to an In-Frame Deletion of the α1(VI) Collagen Chain in an Italian Family Affected by Bethlem Myopathy

Author： Pepe G.   Giusti B.   Bertini E.   Brunelli T.   Saitta B.   Comeglio P.   Bolognese A.   Merlini L.   Federici G.   Abbate R.   Chu M-L.  

Publisher： Elsevier

ISSN： 0006-291X

Source： Biochemical and Biophysical Research Communications, Vol.258, Iss.3, 1999-05, pp. : 802-807

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