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The UCMD-Causing COL6A1 (c.930+189C>T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α 1 Chains

Document Type

Article

Author

Freiburg, C.D.; Solomon-Degefa, H.; Schmitz, S.; Schiavinato, A.; Paulsson, M.; Wagener, R.; Freiburg, P.; Behrmann, E.; Mörgelin, M.; Bolduc, V.; Bönnemann, C.G.; Ala, P.; Muntoni, F.

Source

In: Human Mutation. (Human Mutation, 2023, 2023)

Subject

Language

English

ISSN

10981004
10597794

Online Access

Full Text (Wiley Journals) Full Text (ProQuest Central) Open Access (Wiley) Web of Science JCR 저널정보 Scopus Find it@PNU

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