A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

✍ Scribed by G Pepe; E Bertini; B Giusti; T Brunelli; P Comeglio; B Saitta; L Merlini; M.L Chu; G Federici; R Abbate

• Book ID: 117671032
• Publisher: Elsevier Science
• Year: 1999
• Tongue: English
• Weight: 490 KB
• Volume: 9
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/s0960-8966(99)00014-0