A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the a1 (VI) collagen chain in an Italian family affected by Bethlem myopathy / PEPE G, GIUSTI B, BERTINI E, BRUNELLI T, SAITTA B, COMEGLIO P, BOLOGNESE A, MERLINI L, FEDERICI G, R. ABBATE, CHU ML. - In: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. - ISSN 0006-291X. - STAMPA. - 258:(1999), pp. 802-817.
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the a1 (VI) collagen chain in an Italian family affected by Bethlem myopathy.
PEPE, GUGLIELMINA;GIUSTI, BETTI;ABBATE, ROSANNA;
1999
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