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Biochemical and Biophysical Research Communications, Vol. 236, Iss. 3, 1997-07 ,pp. : 544-548

Elsevier

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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

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

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

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A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III

By Okubo M.   Aoyama Y.   Murase T.  

Biochemical and Biophysical Research Communications, Vol. 224, Iss. 2, 1996-07 ,pp. : 493-499

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Compound Heterozygosity for an Out-of-Frame Deletion and a Splice Site Mutation in the LAMB3 Gene Causes Nonlethal Junctional Epidermolysis Bullosa

By Posteraro P.   Sorvillo S.   Gagnoux-Palacios L.   Angelo C.   Paradisi M.   Meneguzzi G.   Castiglia D.   Zambruno G.  

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A Splice Mutation in the Human Canalicular Multispecific Organic Anion Transporter Gene Causes Dubin-Johnson Syndrome

By Kajihara S.   Hisatomi A.   Mizuta T.   Hara T.   Ozaki I.   Wada I.   Yamamoto K.  

Biochemical and Biophysical Research Communications, Vol. 253, Iss. 2, 1998-12 ,pp. : 454-457

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