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.
| Image |  |
|---|---|
| Description | scientific article |
| Author/s |
author: Małgorzata Rydzanicz Agnieszka Koppolu Agnieszka Madej-Pilarczyk Barbara Steinborn Joanna Kosińska Piotr Gasperowicz Jolanta Dorszewska Andrzej Kochański Rafał Płoski |
| Publication date | January 1, 2017 |
| Language | |
| Country of origin | |
| Wikipedia link | |
| Copyright status | |
| Missing/wrong data? | Edit Wikidata item |