A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
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R. Płoski | A. Kochański | J. Dorszewska | W. Kozubski | M. Rydzanicz | J. Kosińska | B. Steinborn | P. Gasperowicz | A. Madej-Pilarczyk | Agnieszka Koppolu