Coexistence of digenic mutations in the collagen VI genes...

Clinica Chimica Acta 2020 / 09 Vol. 508

Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy

Choi, Eunseok, Shin, Soyoung, Lee, Sangjee, Lee, Sook Joung, Park, Joonhong
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Volume:
508
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2020.05.011
Date:
September, 2020
File:
PDF, 877 KB
2020
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